Article
Warburg Micro syndrome.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012
Dursun Fatma, Güven Ayla, Morris-Rosendahl Deborah
Abstract excerpt
Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism. We report an 11-month-old boy who was referred for assessment of micropenis and cryptorchidism. Sequence analysis of exon 8 of the RAB3GAP1 gene confirmed the presence of a splice donor...
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