X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.
作者信息
Mikat Barbara, Roll Claudia, Schindler Detlev, Gembruch Ulrich, Klempert Iris, Buiting Karin, Bramswig Nuria C, Wieczorek Dagmar
机构信息
aInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Duisburg and Essen bDepartment of Neonatology, Vest Children's Hospital Datteln, University Witten/Herdecke, Datteln cInstitute of Human Genetics, Biozentrum, University of Würzburg, Würzburg dDepartment of Obstetrics and Prenatal Medicine, University Bonn Medical School, Bonn eInstitute of Pathology, Charite - Universitaetsmedizin Berlin, Berlin, Germany.
出版信息
Clin Dysmorphol. 2016 Apr;25(2):73-6. doi: 10.1097/MCD.0000000000000111.
PMID:26683739
Abstract
摘要
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