Transitory hypogammaglobulinemia of infancy in FG syndrome
β Scribed by A. Finocchi; P. Palma; P. Rossi; J.M. Opitz; G. Neri
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 72 KB
- Volume
- 138A
- Category
- Article
- ISSN
- 1552-4825
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FG syndrome is an X-linked incomplete recessive condition comprising mental retardation, congenital hypotonia, macrocephaly, a distinctive facial appearance, and constipation or anal malformations. Here, we report on a chromosome X inversion [inv(X)(q12q28)] in a boy with FG syndrome and in his ment
## Abstract Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilk 117:1β18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [Risheg et al. (2007); Nat Genet 39:451β453] identified