Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature.
第一作者:
Ping,Yuan
第一单位:
IVF Center, Department of Obstetrics and Gynecology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
作者:
主题词
青少年(Adolescent);等位基因(Alleles);碱性螺旋-环-螺旋转录因子类(Basic Helix-Loop-Helix Transcription Factors);近亲(Consanguinity);环磷酰胺(Cyclophosphamide);侏儒症(Dwarfism);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);系谱(Pedigree);表型(Phenotype);原发性卵巢功能不全(Primary Ovarian Insufficiency)
DOI
10.1111/cge.13486
PMID
30474133
发布时间
2020-08-03
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Clinical genetics
409-414页
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