| Literature DB >> 22768674 |
Fatma Dursun1, Ayla Güven, Deborah Morris-Rosendahl.
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. 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.Entities:
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Year: 2012 PMID: 22768674 DOI: 10.1515/jpem-2011-0459
Source DB: PubMed Journal: J Pediatr Endocrinol Metab ISSN: 0334-018X Impact factor: 1.634