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A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

作者信息

Steichen-Gersdorf Elisabeth, Griesmaier Elke, Pientka Friederike K, Kotzot Dieter, Kutsche Kerstin

机构信息

Department of Pediatrics and Adolescent Medicine Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

出版信息

Clin Dysmorphol. 2010 Apr;19(2):82-84. doi: 10.1097/MCD.0b013e32833593b7.

DOI:10.1097/MCD.0b013e32833593b7
PMID:20179582
Abstract
摘要

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Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.携带HCCS突变的女性的临床谱:从无临床症状到小眼畸形伴线性皮肤缺损(MLS)综合征的新生儿致死形式。
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Mol Vis. 2013;19:311-8. Epub 2013 Feb 6.