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wolf-hirschhorn syndrome - rare chromosomal disorder with small head, abnormal facial features and low muscle tone Definition for Wolf-Hirschhorn Syndrome The most common abnormalties seen include severe to profound mental retardation, microcephaly, seizures, hypotonia, and cleft lip and/or palate. more The most common abnormalties seen include severe to profound mental retardation, microcephaly, seizures, hypotonia, and cleft lip and/or palate. Characteristic facial features, include strabismus, hypertelorism, down-turned "fishlike" mouth, short upper lip and philtrum, small chin, ear tags or pits, and cranial asymmetry. Occasional abnormalities include heart defects, hypospadias, scoliosis, ptosis, fused teeth, hearing loss, delayed bone age, low hairline with webbed neck, and renal anomalies. They are described as happy, loving children. less some common symptoms abnormal gait convulsions had convulsions but not seizing now poor appetite some related diagnoses 1 - 7 of 60 diagnoses drugs and toxins human immunodeficiency virus infections subdural hematoma hydrocephalus intracranial tumor hepatic failure or coma hypomagnesemia   more do i have 'Wolf-Hirschhorn Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'wolf-hirschhorn syndrome' 1 - 5 of 32 diagnostic tests Chromosomal analysis Wolf-Hirschhorn Syndrome and Chromosomal analysis Fluorescent in situ hybridization (FISH) Wolf-Hirschhorn Syndrome and Fluorescent in situ hybridization (FISH) B cell count Wolf-Hirschhorn Syndrome and B cell count Brain MRI Wolf-Hirschhorn Syndrome and Brain MRI Chest X-ray Radiological technique to image the chest Wolf-Hirschhorn Syndrome and Chest X-ray ECHOcardiogram Wolf-Hirschhorn Syndrome and ECHOcardiogram EEG - Electroencephalogram Wolf-Hirschhorn Syndrome and EEG - Electroencephalogram Hearing test standard technique of representing hearing loss Wolf-Hirschhorn Syndrome and Hearing test Ultrasonography kidneys ureter bladder Wolf-Hirschhorn Syndrome and Ultrasonography kidneys ureter bladder X-ray forearm Wolf-Hirschhorn Syndrome and X-ray forearm X-ray hand(s) Wolf-Hirschhorn Syndrome and X-ray hand(s) X-ray hip joint(s) Wolf-Hirschhorn Syndrome and X-ray hip joint(s) X-ray spine Wolf-Hirschhorn Syndrome and X-ray spine serum immunoglobulins Wolf-Hirschhorn Syndrome and serum immunoglobulins vision tests Wolf-Hirschhorn Syndrome and vision tests CT brain Wolf-Hirschhorn Syndrome and CT brain Serum IgA Wolf-Hirschhorn Syndrome and Serum IgA T-cell function Wolf-Hirschhorn Syndrome and T-cell function antibody response to pneumococcal vaccination Wolf-Hirschhorn Syndrome and antibody response to pneumococcal vaccination serum IgG subclasses Wolf-Hirschhorn Syndrome and serum IgG subclasses Array genomic hybridization Wolf-Hirschhorn Syndrome and Array genomic hybridization B cell function Wolf-Hirschhorn Syndrome and B cell function Dental x-rays Wolf-Hirschhorn Syndrome and Dental x-rays T cell counts Wolf-Hirschhorn Syndrome and T cell counts CT scan Wolf-Hirschhorn Syndrome and CT scan Comprehensive eye exam Wolf-Hirschhorn Syndrome and Comprehensive eye exam Developmental testing Wolf-Hirschhorn Syndrome and Developmental testing T-cell responses to mitogens Wolf-Hirschhorn Syndrome and T-cell responses to mitogens T-cell subsets CD3, CD4, CD8 Wolf-Hirschhorn Syndrome and T-cell subsets CD3, CD4, CD8 X-ray extremities Wolf-Hirschhorn Syndrome and X-ray extremities X-rays Wolf-Hirschhorn Syndrome and X-rays speech reception threshold (SRT) Wolf-Hirschhorn Syndrome and speech reception threshold (SRT) for more please login, login is free (click to login) therapeutic procedures for 'Wolf-Hirschhorn Syndrome'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Wolf-Hirschhorn Syndrome: therapeutic procedure search results for 'wolf-hirschhorn syndrome' 1 - 2 of 2 therapeutic procedures rankings are computer generated. please consult your health care provider. Special Education Wolf-Hirschhorn Syndrome and Special Education Speech Therapy Wolf-Hirschhorn Syndrome and Speech Therapy medications search results for 'wolf-hirschhorn syndrome' 1 - 5 of 13 medications rankings are computer generated. please consult your health care provider.   Phenytoin Wolf-Hirschhorn Syndrome and Phenytoin   Valproic acid Wolf-Hirschhorn Syndrome and Valproic acid   Phenobarbital Wolf-Hirschhorn Syndrome and Phenobarbital   Carbamazepine Wolf-Hirschhorn Syndrome and Carbamazepine   Topiramate Wolf-Hirschhorn Syndrome and Topiramate   Gabapentin Wolf-Hirschhorn Syndrome and Gabapentin   Lamotrigine Wolf-Hirschhorn Syndrome and Lamotrigine   Levetiracetam Wolf-Hirschhorn Syndrome and Levetiracetam   Oxcarbazepine Wolf-Hirschhorn Syndrome and Oxcarbazepine   Pregabalin Wolf-Hirschhorn Syndrome and Pregabalin   Felbamate Wolf-Hirschhorn Syndrome and Felbamate   Zonisamide Wolf-Hirschhorn Syndrome and Zonisamide   Tiagabine Wolf-Hirschhorn Syndrome and Tiagabine for more please login, login is free (click to login) web search results for wolf-hirschhorn syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Wolf-Hirschhorn Syndrome Wolf-Hirschhorn syndrome - Wikipedia, the free encyclopedia Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p ... Wolf-hirschhorn syndrome ... Wolf-Hirschhorn syndrome (4) · Cri du chat/Chromosome 5q ... http://en.wikipedia.org/wiki/Wolf-Hirschhorn_syndrome   en.wikipedia.org - summary Wolf-Hirschhorn syndrome - Genetics Home Reference Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. ... and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. ... http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome   ghr.nlm.nih.gov - summary Wolf-Hirschhorn syndrome candidate 2 (WHSC2) Human protein-coding gene WHSC2. Represented by 509 ESTs from 197 cDNA libraries. ... Homo sapiens Wolf-Hirschhorn syndrome candidate 2 protein (WHSC2) mRNA, complete ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=21771   www.ncbi.nlm.nih.gov - summary Wolf-Hirschhorn syndrome - References - Genetics Home Reference Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. Am ... Wolf-Hirschhorn Syndrome ... Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH ... http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome/show/References   ghr.nlm.nih.gov - summary Wolf-Hirschhorn syndrome candidate 1 (WHSC1) PREDICTED: Wolf-Hirschhorn syndrome candidate 1 protein isoform 6. P. ... Homo sapiens Wolf-Hirschhorn syndrome candidate 1, mRNA (cDNA clone IMAGE: ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=113876   www.ncbi.nlm.nih.gov - summary Wolf-Hirschhorn syndrome candidate 1 (human) (Whsc1) Norway rat protein-coding gene Whsc1. Represented by 42 ESTs from 24 ... Wolf-Hirschhorn syndrome candidate 1 (human) (Whsc1) SELECTED PROTEIN SIMILARITIES ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=53029   www.ncbi.nlm.nih.gov - summary WHSC1 - Wolf-Hirschhorn syndrome candidate 1 - Genetics Home Reference The official name of this gene is "Wolf-Hirschhorn syndrome candidate 1. ... Wolf-Hirschhorn syndrome - associated with the WHSC1 gene ... http://ghr.nlm.nih.gov/gene=whsc1   ghr.nlm.nih.gov - summary Wolf-Hirschhorn Syndrome -- GeneReviews -- NCBI Bookshelf Wolf-Hirschhorn syndrome (WHS) is characterized by typical craniofacial features ... WOLF-HIRSCHHORN SYNDROME CANDIDATE 1; WHSC1 ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs   www.ncbi.nlm.nih.gov - summary Wolf-Hirschhorn syndrome - Educational resources - Information pages ... ... in the Genetics Home Reference condition summary on Wolf-Hirschhorn syndrome. Ask the Geneticist: Wolf-Hirschhorn syndrome. Madisons Foundation ... http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome/show...   ghr.nlm.nih.gov - summary Wolf-Hirschhorn syndrome candidate 1 (whsc1) Zebrafish protein-coding gene whsc1. Represented by 58 ESTs from 25 cDNA ... Danio rerio Wolf-Hirschhorn syndrome candidate 1 protein (whsc1) mRNA, partial cds ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Dr&CID=78031   www.ncbi.nlm.nih.gov - summary Wolf-Hirschhorn syndrome - MedlinePlus - Health information - Genetics ... Genetic Conditions > Wolf-Hirschhorn syndrome > MedlinePlus - Health information ... in the Genetics Home Reference condition summary on Wolf-Hirschhorn syndrome. ... http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome/show/MedlinePlus   ghr.nlm.nih.gov - summary Wolf-Hirschhorn syndrome candidate 1 (human) (Whsc1) Mouse protein-coding gene Whsc1. Represented by 237 ESTs from ... Mus musculus Wolf-Hirschhorn syndrome candidate 1 (human), mRNA (cDNA clone IMAGE:30356300) ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=19892   www.ncbi.nlm.nih.gov - summary Wolf-Hirschhorn syndrome candidate 2 (human) (Whsc2) Norway rat protein-coding gene Whsc2. Represented by 47 ESTs from 30 cDNA ... Rattus norvegicus Wolf-Hirschhorn syndrome candidate 2 (human), mRNA (cDNA clone ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=9138   www.ncbi.nlm.nih.gov - summary Wolf-Hirschhorn syndrome - Patient support - For patients and families ... Genetic Conditions > Wolf-Hirschhorn syndrome > Patient support - For ... in the Genetics Home Reference condition summary on Wolf-Hirschhorn syndrome. ... http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome/show/Patient+support   ghr.nlm.nih.gov - summary Seizure frequency in adults with Wolf-Hirschhorn syndrome. Seizure frequency in adults with Wolf-Hirschhorn syndrome. Worthington JC, Rigby AS, Quarrell OW. ... feature of Wolf-Hirschhorn syndrome (WHS) with onset ... http://www.ncbi.nlm.nih.gov/pubmed/18792972?ordinalpos=17&it...   www.ncbi.nlm.nih.gov - summary Mouse models of Wolf-Hirschhorn syndrome. Wolf-Hirschhorn syndrome (WHS), caused by deletions in 4p16.3, is the first ... Wolf-Hirschhorn Syndrome/pathology. Substances: Fgfr3 protein, mouse ... http://www.ncbi.nlm.nih.gov/pubmed/18932126?ordinalpos=47&it...   www.ncbi.nlm.nih.gov - summary [Wolf-Hirschhorn syndrome, cat cry syndrome] 1: Ryoikibetsu Shokogun Shirizu. 1996;(15):202-4. [Wolf-Hirschhorn syndrome, cat cry syndrome] ... Cri-du-Chat Syndrome* Female. Humans. Infant. Infant, Newborn. Male ... http://www.ncbi.nlm.nih.gov/pubmed/9047986   www.ncbi.nlm.nih.gov - summary Wolf-Hirschhorn syndrome - Related Chromosome(s) - Genetics Home Reference Genetic Conditions > Wolf-Hirschhorn syndrome > Related Chromosome(s) chromosome 4 ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome/show...   ghr.nlm.nih.gov - summary Wolf-Hirschhorn syndrome candidate 1-like 1 (human) (Whsc1l1) Mouse protein-coding gene Whsc1l1. Represented by 258 ESTs from 113 cDNA libraries. ... Mus musculus Wolf-Hirschhorn syndrome candidate 1-like 1 (human), mRNA (cDNA ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=217337   www.ncbi.nlm.nih.gov - summary Wolf-Hirschhorn syndrome - Related Gene(s) - Genetics Home Reference Genetic Conditions > Wolf-Hirschhorn syndrome > Related Gene(s) ... WHSC1: Wolf-Hirschhorn syndrome candidate 1. Reviewed: January 2009. Published: April 17, 2009 ... http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome/show/Related+Gene(s)   ghr.nlm.nih.gov - summary Wolf-Hirschhorn syndrome candidate 2 (human) (Whsc2) Mouse protein-coding gene Whsc2. Represented by 330 ESTs from ... Mus musculus Wolf-Hirschhorn syndrome candidate 2 protein homolog (Whsc2) mRNA, partial cds ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=332320   www.ncbi.nlm.nih.gov - summary Malignant hyperthermia in the Wolf-Hirschhorn syndrome. ... 8. Malignant hyperthermia in the Wolf-Hirschhorn syndrome. Ellis FR, Halsall PJ. Publication ... Hyperthermia/etiology* Syndrome. PMID: 2757162 [PubMed ... http://www.ncbi.nlm.nih.gov/pubmed/2757162   www.ncbi.nlm.nih.gov - summary Wolf-Hirschhorn syndrome candidate 1-like 1, mRNA (cDNA clone IMAGE ... Human protein-coding gene WHSC1L1. Represented by 280 ESTs from 168 cDNA libraries. ... Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=700599   www.ncbi.nlm.nih.gov - summary Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently ... Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted ... to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map ... http://www.ncbi.nlm.nih.gov/pubmed/12563561   www.ncbi.nlm.nih.gov - summary Last 12 months - Genetics Home Reference Condition: Wolf-Hirschhorn syndrome. Condition: Y chromosome infertility ... Gene: WHSC1: Wolf-Hirschhorn syndrome candidate 1. Gene family: USP. December 19, 2008 ... http://www.ghr.nlm.nih.gov/whatsnew/show/12months   www.ghr.nlm.nih.gov - summary Chromosomal Deletion Syndromes: Chromosomal Anomalies: Merck Manual ... 5p-Deletion (cri du chat syndrome) 4p-Deletion (Wolf-Hirschhorn syndrome) ... 4p-Deletion (Wolf-Hirschhorn syndrome): Deletion of the short arm of chromosome ... http://www.merck.com/mmpe/sec19/ch294/ch294f.html   www.merck.com - summary WOLF SYNDROME - Pedbase.org also referred to as Wolf-Hirschhorn Syndrome. CLINICAL FEATURES: 1. Facial Dysmorphic Features ... Wolf-Hirschhorn Syndrome. Pediatric Database - WOLF SYNDROME ... http://www.pedbase.org/w/wolf-syndrome   www.pedbase.org - summary First known microdeletion within the Wolf-Hirschhorn syndrome critical ... ... microdeletion within the Wolf-Hirschhorn syndrome critical region refines ... band 4p16.3 cause Wolf-Hirschhorn syndrome (WHS), which comprises mental ... http://www.ncbi.nlm.nih.gov/pubmed/11252005   www.ncbi.nlm.nih.gov - summary A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome ... ... map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. ... Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome characterised ... http://www.ncbi.nlm.nih.gov/pubmed/9063753   www.ncbi.nlm.nih.gov - summary Orphanet: Wolf Hirschhorn syndrome Wolf-Hirschhorn syndrome. Orpha number. ORPHA280. Prevalence of rare diseases. 1-9 ... Wolf-Hirschhorn syndrome (WHS) is characterized by the association of a ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=280   www.orpha.net - summary 2009 MeSH Tree Structures. C16 - Congenital, Hereditary, and Neonatal ... Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolfram Syndrome [C16.131.077.951] ... Wolf-Hirschhorn Syndrome [C16.131.260.985] DiGeorge Syndrome [C16.131.300] ... http://www.nlm.nih.gov/mesh/2009/mesh_trees/C16.html   www.nlm.nih.gov - summary LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an ... ... a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved ... been cloned in an attempt to identify genes deleted in Wolf-Hirschhorn ... http://www.ncbi.nlm.nih.gov/pubmed/14706454   www.ncbi.nlm.nih.gov - summary Encyclopedia W-Wz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, incidence, ... Syndrome. Wolf Hirschhorn Syndrome ... http://health.yahoo.com/ency/w   health.yahoo.com - summary Index: WO: Merck Manual Professional Atrial fibrillation in Wolff-Parkinson-White syndrome. Wolf-Hirschhorn syndrome. Chromosomal Deletion Syndromes: 4p-Deletion (Wolf-Hirschhorn syndrome) ... http://www.merck.com/mmpe/index/ind_wo.html   www.merck.com - summary MSX1 - msh homeobox 1 - Genetics Home Reference Wolf-Hirschhorn syndrome - associated with the MSX1 gene ... split in the upper lip (cleft lip) in some people with Wolf-Hirschhorn syndrome. ... http://ghr.nlm.nih.gov/gene=msx1   ghr.nlm.nih.gov - summary Trisomy 13: Chromosomal Anomalies: Merck Manual Professional Ear, Nose, Throat, and Dental Disorders. Endocrine and Metabolic Disorders ... Deletion Syndromes· Down Syndrome· Fragile X Syndrome· Sex Chromosome Anomalies ... http://www.merck.com/mmpe/sec19/ch294/ch294e.html   www.merck.com - summary Chromosome 4 - References - Genetics Home Reference Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet. ... currently described Wolf-Hirschhorn syndrome critical regions ... http://ghr.nlm.nih.gov/chromosome=4/show/References   ghr.nlm.nih.gov - summary Bones, muscles, and connective tissues - Genetics Home Reference chromosome 4p monosomy see Wolf-Hirschhorn syndrome ... 4p see Wolf-Hirschhorn syndrome. 17p11.2 monosomy ... partial monosomy 4p see Wolf-Hirschhorn syndrome ... http://ghr.nlm.nih.gov/conditionCategory=bonesmusclesandconnectivetissues   ghr.nlm.nih.gov - summary Wolf-Hirschhorn Syndrome Wolf-Hirschhorn syndrome (WHS) is characterized by typical ... (4p16.3) is the only known cause of Wolf-Hirschhorn syndrome. Uses of clinical testing ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Search Results - Genetics Home Reference Found: Wolf-Hirschhorn syndrome is a condition that affects many... Found: ...in people with the typical features of Wolf-Hirschhorn syndrome. ... http://ghr.nlm.nih.gov/ghr/search?query=Wolf+Hirschhorn   ghr.nlm.nih.gov - summary Wolf-Hirschhorn Syndrome - Yahoo! Health ... Children's Health > Wolf-Hirschhorn Syndrome. Wolf-Hirschhorn Syndrome ... Health Home children Wolf-Hirschhorn Syndrome. Elsewhere on Yahoo! Health. Exercise ... http://health.yahoo.com/children-resources/wolf-hirschhorn-s...   health.yahoo.com - summary MedlinePlus: Developmental Disabilities Angelman Syndrome(National Institute of Neurological ... Genetics Home Reference: Wolf-Hirschhorn syndrome(National Library of Medicine) Return to top ... http://www.nlm.nih.gov/medlineplus/developmentaldisabilities.html   www.nlm.nih.gov - summary Heart and circulation - Genetics Home Reference chromosome 4p monosomy see Wolf-Hirschhorn syndrome ... monosomy 4p see Wolf-Hirschhorn syndrome. monosomy 5p see cri-du-chat syndrome ... http://ghr.nlm.nih.gov/conditionCategory=heartandcirculation   ghr.nlm.nih.gov - summary LETM1 - leucine zipper-EF-hand containing transmembrane protein 1 ... Wolf-Hirschhorn syndrome - associated with the LETM1 gene ... abnormality is related to the signs and symptoms of Wolf-Hirschhorn syndrome. ... http://ghr.nlm.nih.gov/gene=letm1   ghr.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Wolf Hirschhorn Syndrome. Wolf Syndrome. Wolff Parkinson White Syndrome. Wolf-Hirschhorn Chromosome Region (WHCR) Wolfram Syndrome. Women and Coronary Artery Disease ... http://www.webmd.com/a-to-z-guides/health-topics/wk-wo.htm   www.webmd.com - summary Basgul A, Kavak ZN, Akman I, Basgul A, Gokaslan H, Elcioglu N. ... 2006 08 14 2006 09 28 0390-6663 33 2 2006 Prenatal diagnosis of Wolf-Hirschhorn ... 105-6 Wolf-Hirschhorn syndrome (WHS) is a rare distinct clinical entity caused ... http://www.ncbi.nlm.nih.gov/pubmed/16903248?ordinalpos=177&i...   www.ncbi.nlm.nih.gov - summary LETM1 - References - Genetics Home Reference ... deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial ... binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and ... http://ghr.nlm.nih.gov/gene=letm1/show/References   ghr.nlm.nih.gov - summary Hirschhorn - Wikipedia, the free encyclopedia Hirschhorn (Neckar), a town in Hesse, Germany ... K. Hirschhorn, researcher of Wolf-Hirschhorn Syndrome. Philippe Hirschhorn (1946?1996) ... http://en.wikipedia.org/wiki/Hirschhorn   en.wikipedia.org - summary Roberto Giorda - NextBio ... and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. ... genotype/phenotype map of Wolf-Hirschhorn syndrome (WHS) has been refined, using ... http://www.nextbio.com/b/literature/literature.nb?author=Roberto+Giorda   www.nextbio.com - summary 194190 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194190   www.ncbi.nlm.nih.gov - summary show more 1  2