Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.
作者信息
Kremer Hovinga Idske C L, Giltay Jacques C, van der Crabben Saskia N, Steyls Anja, van der Kamp Hetty J, Paulussen Aimee D C
机构信息
Department of Pediatric Endocrinology, Wilhelmina Children's hospital/University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Department of Genetics, Wilhelmina Children's hospital/University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
出版信息
Clin Endocrinol (Oxf). 2018 Sep;89(3):378-380. doi: 10.1111/cen.13760. Epub 2018 Jul 3.
PMID:29876959
Abstract
摘要
Zotero 插件