Warburg Micro syndrome

被引：13

作者：

Dursun, Fatma ^{[1
]}

Gueven, Ayla ^{[1
]}

Morris-Rosendahl, Deborah ^{[2
]}

机构：

[1] Goztepe Educ & Res Hosp, Pediat Endocrinol Clin, Istanbul, Turkey

[2] Univ Clin Freiburg, Inst Human Genet, Freiburg, Germany

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2012年 / 25卷 / 3-4期

关键词：

cataract; micropenis; Warburg Micro syndrome; CONGENITAL CATARACT; OPTIC ATROPHY; HYPOGENITALISM; MICROPHTHALMIA; RETARDATION; SIBLINGS;

D O I：

10.1515/jpem-2011-0459

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：379 / 382

页数：4

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