Abstract
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 VSports app下载. 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 mutation (748+1G>A) in the homozygous state.
Received: 2011-11-21
Accepted: 2012-1-13
Published Online: 2012-02-27
Published in Print: 2012-04-01
©2012 by Walter de Gruyter Berlin Boston
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