Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations

被引:30
|
作者
Hernandez, Alba M.
Villamar, Manuela
Rosello, Lidia
Moreno-Pelayo, Miguel A.
Moreno, Felipe
del Castillo, Ignacio
机构
[1] Hosp Ramon y Cajal, Unidad Genet Mol, E-28034 Madrid, Spain
[2] Ctr RV Alfa, Madrid, Spain
关键词
D O I
10.1002/ajmg.a.31617
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:757 / 762
页数:6
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