Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. [electronic resource]
Producer: 20120615Description: 466-71 p. digitalISSN:- 1399-0004
- 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
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Publication Type: Journal Article
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