伴有5p15.33 - 染色体末端缺失的眼耳脊椎综合征。
Oculoauriculovertebral spectrum with 5p15.33-pter deletion.
作者信息
Descartes Maria
机构信息
Department of Genetics and Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
出版信息
Clin Dysmorphol. 2006 Jul;15(3):153-154. doi: 10.1097/01.mcd.0000204989.46743.ad.
Abstract
A report of the sixth case with the oculoauriculovertebral phenotype with limb anomalies and 5p terminal deletion is described.
摘要
本文报道了第六例患有眼耳脊柱综合征并伴有肢体异常及5p末端缺失的病例。
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