Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

American Journal of Medical Genetics, Part A

Volumn 143, Issue 19, 2007, Pages 2334-2338

  Bottani, Armand ^a   Orrico, Alfredo ^b   Galli, Lucia ^b   Karam, Olivier ^a   Haenggeli, Charles André ^a   Ferey, Solène ^a   Conrad, Bernard ^a,c,d  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY OF BERN   (Switzerland)

Author keywords

Aarskog Scott syndrome; Polymicrogyria FGD1; RhoGEF domain

Indexed keywords

ADENINE; GUANINE; METHIONINE; PROTEIN CDC42; RHO GUANINE NUCLEOTIDE BINDING PROTEIN; VALINE;

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CLINICAL FEATURE; CLINODACTYLY; CRYPTORCHISM; DIAGNOSTIC IMAGING; FACIOGENITAL DYSPLASIA; FGD1 GENE; FUNNEL CHEST; GENE; HUMAN; IMAGE ANALYSIS; INGUINAL HERNIA; LEARNING DISORDER; MALE; MICROGYRIA; MIGRAINE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SYMPTOM; TONIC CLONIC SEIZURE;

AMINO ACID SEQUENCE; ANIMALS; EVOLUTION; FACE; GENETIC DISEASES, X-LINKED; GENITALIA; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME;

EID: 34848922763     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31733     Document Type: Article

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