Rubinstein-Taybi because of a novel EP300 mutation with novel clinical findings.
作者信息
Jagla Mateusz, Tomasik Tomasz B, Czyz Ola, Krol Mateusz, van Houdt Jeroen K J, Kwinta Przemko, Nowakowska Beata A
机构信息
aDepartment of Pediatrics bJagiellonian University Medical College, Kraków cDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland dJeroen KJ van Houdt, Center for Human Genetics, University Hospital Gasthuisberg, Catholic University Leuven, Leuven, Belgium.
出版信息
Clin Dysmorphol. 2017 Jul;26(3):170-174. doi: 10.1097/MCD.0000000000000164.
PMID:28027063
Abstract
摘要
Zotero 插件