Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant

被引：0

作者：

Sorrentino, Ugo ^{[1
,5
]}

Agosto, Caterina ^{[2
]}

Benini, Franca ^{[2
]}

Bertolin, Cinzia ^{[1
]}

Cassina, Matteo ^{[1
]}

Bonadies, Luca ^{[3
]}

Caroppo, Francesca ^{[4
]}

Fortina, Anna Belloni ^{[4
]}

Salviati, Leonardo ^{[1
]}

机构：

[1] Univ Hosp Padova, Dept Womens & Childrens Hlth, Clin Genet Unit, Padua, Italy

[2] Univ Hosp Padova, Dept Womens & Childrens Hlth, Pediat Pain & Palliat Care Serv, Padua, Italy

[3] Univ Hosp Padova, Dept Womans & Childs Hlth, Neonatal Intens Care Unit, Padua, Italy

[4] Univ Hosp Padova, Dept Med DIMED, Pediat Dermatol Unit, Padua, Italy

[5] Univ Hosp Padova, Dept Womens & Childrens Hlth, Clin Genet Unit, I-35128 Padua, Italy

来源：

关键词：

D O I：

10.1111/cge.14396

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：604 / 606

页数：3

共 3 条