Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.
作者信息
Midro Alina T, Tommerup Niels, Borys Jan, Panasiuk Barbara, Kosztyła-Hojna Bożena, Zalewska Renata, Konstantynowicz Jerzy, Łebkowska Urszula, Cooper Lance, Scherer Steven E, Mehrjouy Manna M, Liu Qian, Skowroński Rafał, Stankiewicz Paweł
机构信息
Department of Clinical Genetics, Medical University of Białystok, Białystok, Poland.
Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark.
出版信息
Clin Genet. 2019 Apr;95(4):534-536. doi: 10.1111/cge.13490. Epub 2019 Jan 11.
PMID:30633344
Abstract
摘要
Zotero 插件