Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome

Turkish Journal of Pediatrics

Volumn 52, Issue 5, 2010, Pages 525-528

  Ratbi, Ilham ^a,b   Elalaoui, Siham Chafai ^a   Moizard, Marie Pierre ^c   Raynaud, Martine ^c   Sefiani, Abdelaziz ^a,b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b MOHAMMED V UNIVERSITY   (Morocco)

^c UNIVERSITY HOSPITAL OF TOURS   (France)

Author keywords

Congenital hypothyroidism; GPC3 gene; Overgrowth; Simpson Golabi Behmel syndrome; Supernumerary nipple

Indexed keywords

CYTOSINE; THYMINE; THYROID HORMONE;

ARTICLE; CASE REPORT; CHILD; CONGENITAL HYPOTHYROIDISM; CONSANGUINITY; DENTAL CARIES; FACE DYSMORPHIA; GENE; GENETIC SCREENING; GLYPICAN 3 GENE; GROWTH RETARDATION; HUMAN; HYPERTELORISM; LIP MALFORMATION; MACROGLOSSIA; MACROSOMIA; MALE; MUSCLE HYPOTONIA; NIPPLE MALFORMATION; NONSENSE MUTATION; NOSE MALFORMATION; PHENOTYPE; PSYCHOMOTOR RETARDATION; SIMPSON GOLABI BEHMEL SYNDROME; SYNOSTOSIS; UROGENITAL TRACT MALFORMATION;

ADULT; ARRHYTHMIAS, CARDIAC; CODON, NONSENSE; CONGENITAL HYPOTHYROIDISM; CONSANGUINITY; FEMALE; GIGANTISM; GLYPICANS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MIDDLE AGED; MOROCCO;

EID: 79551597926     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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