Response to Kouwenberg et al. "Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations"

被引：0

作者：

Tuysuz, Beyhan ^{[1
]}

Tolun, Aslihan ^{[2
]}

Yildirim, Yeserin ^{[2
]}

机构：

[1] Istanbul Univ, Dept Pediat Genet, Cerrahpasa Med Fac, Istanbul, Turkey

[2] Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey

来源：

关键词：

CUTIS LAXA; OSTEODYSPLASTICA;

D O I：

10.1002/ajmg.a.34151

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：2333 / 2334

页数：2