Phenotypic spectrum of simpson-golabi-behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 163, Issue 2, 2013, Pages 92-105

  Cottereau, Edouard ^a   Mortemousque, Isabelle ^c   Moizard, Marie Pierre ^c   Bürglen, Lydie ^c   Lacombe, Didier ^c   Gilbert Dussardier, Brigitte ^c   Sigaudy, Sabine ^c   Boute, Odile ^c   David, Albert ^c   Faivre, Laurence ^c   Amiel, Jeanne ^c   Robertson, Robert ^c   Viana Ramos, Fabiana ^c   Bieth, Eric ^c   Odent, Sylvie ^c   Demeer, Bénédicte ^c   Mathieu, Michéle ^c   Gaillard, Dominique ^c   Van Maldergem, Lionel ^c   Baujat, Geneviéve ^c   Maystadt, Isabelle ^c   Héron, Delphine ^c   Verloes, Alain ^c   Philip, Nicole ^c   Cormier Daire, Valérie ^c   Frouté, Marie Françoise ^c   Pinson, Lucile ^c   Blanchet, Patricia ^c   Sarda, Pierre ^c   Willems, Marjolaine ^c   Jacquinet, Adeline ^c   Ratbi, Ilham ^c   Van Den Ende, Jenneke ^c   Lackmy Port Lis, Marylin ^c   Goldenberg, Alice ^c   Bonneau, Dominique ^c   Rossignol, Sylvie ^c   Toutain, Annick ^a,b   more..

^a UNIVERSITY HOSPITAL OF TOURS   (France)

^b UNIVERSITÉ DE TOURS   (France)

^c NONE

Author keywords

GPC3; Overgrowth; SGBS; Simpson Golabi Behmel syndrome; XLID

Indexed keywords

GLYPICAN; GLYPICAN 3; GLYPICAN 4; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CANCER RISK; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; FETUS; FRANCE; GENE DUPLICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; NEWBORN; PHENOTYPIC VARIATION; POINT MUTATION; PRIORITY JOURNAL; PROGNOSIS; SIMPSON GOLABI BEHMEL SYNDROME;

ARRHYTHMIAS, CARDIAC; GENETIC DISEASES, X-LINKED; GIGANTISM; GLYPICANS; HEART DEFECTS, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MUTATION; PHENOTYPE;

EID: 84876789737     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31360     Document Type: Article

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