Familial Simpson-Golabi-Behmel syndrome: Studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations

Clinical Genetics

Volumn 80, Issue 5, 2011, Pages 466-471

  Yano, S ^a   Baskin, B ^b   Bagheri, A ^a   Watanabe, Y ^c   Moseley, K ^a   Nishimura, A ^d   Matsumoto, N ^d   Ray, Pn ^b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Buccal swabs; GPC3; SGBS; Skewed X chromosome inactivation; Skin fibroblasts

Indexed keywords

ANDROGEN RECEPTOR; GLYPICAN 3;

ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHEEK MUCOSA; CHROMOSOME MUTATION; CONGENITAL HEART MALFORMATION; DIAPHRAGM HERNIA; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; FOOT MALFORMATION; FRAGILE XE GENE; FUNNEL CHEST; GENE; GENE MUTATION; HAND MALFORMATION; HEPATOMEGALY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYDROCELE; HYDRONEPHROSIS; HYDROURETER; INFANT; KIDNEY DYSPLASIA; KIDNEY HYPERTROPHY; MACROCEPHALY; MACROGLOSSIA; MACROSOMIA; MALE; MOTHER; MOTOR RETARDATION; NOSE ALA; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECEPTOR GENE; SIBLING; SIMPSON GOLABI BEHMEL SYNDROME; SKELETON MALFORMATION; SPEECH DISORDER; VERTEBRA MALFORMATION; X CHROMOSOME; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; ARRHYTHMIAS, CARDIAC; FEMALE; FRAGILE X SYNDROME; GIGANTISM; GLYPICANS; HEART DEFECTS, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; PHENOTYPE; RECEPTORS, ANDROGEN; X CHROMOSOME INACTIVATION;

EID: 80053512610     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01554.x     Document Type: Article

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