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Case Reports
. 2012;25(3-4):379-82.
doi: 10.1515/jpem-2011-0459.

Warburg Micro syndrome (VSports app下载)

Fatma Dursun  1 , Ayla Güven, Deborah Morris-Rosendahl
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Case Reports

Warburg Micro syndrome

Fatma Dursun et al. J Pediatr Endocrinol Metab. 2012.

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 VSports手机版. .

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