A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.
作者信息
Menzies Lara, Cullup Tom, Calder Alistair, Wilson Louise, Faravelli Francesca
机构信息
Departments of Clinical Genetics.
Molecular Genetics, North East Thames Regional Genetics Service Laboratory, London, UK.
出版信息
Clin Dysmorphol. 2019 Oct;28(4):219-223. doi: 10.1097/MCD.0000000000000291.
PMID:31348018
Abstract
摘要
Zotero 插件