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