Warburg Micro syndrome
Warburg Micro syndrome
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DOI：
10.1515/jpem-2011-0459
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发表时间：
2012-04-01
影响因子：
1.4
通讯作者：
Morris-Rosendahl, Deborah
中科院分区：
文献类型：
--
作者：
Dursun, Fatma;Gueven, Ayla;Morris-Rosendahl, Deborah
微小综合征是一种常染色体隐性遗传疾病，其特征为严重智力残疾、小头畸形、先天性白内障、小角膜、小眼、胼胝体发育不全或发育不全以及生殖器发育不良。我们报告一个11个月大的男孩谁是提到评估小阴茎和隐睾症。RAB3GAP 1基因外显子8的序列分析证实了纯合状态下剪接供体突变（748 + 1G>A）的存在。
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.