Warburg Micro syndrome.

J Pediatr Endocrinol Metab

Göztepe Educational and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey.

Published: July 2012

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 mutation (748+1G>A) in the homozygous state.

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Source
http://dx.doi.org/10.1515/jpem-2011-0459DOI Listing

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