Yano, S

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. [electronic resource] - Clinical genetics Nov 2011 - 466-71 p. digital

Publication Type: Journal Article

1399-0004

10.1111/j.1399-0004.2010.01554.x doi


Abnormalities, Multiple--genetics
Arrhythmias, Cardiac--genetics
Female
Fragile X Syndrome--genetics
Genetic Diseases, X-Linked
Gigantism--genetics
Glypicans--genetics
Heart Defects, Congenital--genetics
Humans
Intellectual Disability--genetics
Male
Mutation
Phenotype
Receptors, Androgen
X Chromosome Inactivation--genetics