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Warburg Micro syndrome

  • Fatma Dursun EMAIL logo , Ayla Güven and Deborah Morris-Rosendahl
Published/Copyright: February 27, 2012
Journal of Pediatric Endocrinology and Metabolism
From the journal Volume 25 Issue 3-4

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.


Corresponding author: Dr. Fatma Dursun, Göztepe Eğitim ve Araştırma Hastanesi, Çocuk Endokrin Kliniği Eğğitim, Kadıköy, Istanbul, Türkiye Fax: +90 216 566 40 23

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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