A novel missense mutation of the KDM6A gene in an Albanian female patient with Kabuki type 2 syndrome

被引：0
|
作者：
Babameto-Laku, Anila [1 ]
Gjikopulli, Agim [2 ]
Bushati, Aida [3 ]
机构：
[1] Univ Hosp Ctr Mother Teresa, Serv Med Genet, Fac Med, Tirana, Albania
[2] Univ Hosp Ctr Mother Teresa, Serv Pediat Endocrinol, Fac Med, Tirana, Albania
[3] Univ Hosp Ctr Mother Teresa, Serv Pediat Neurol, Fac Med, Tirana, Albania
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
EP12.041
引用
收藏
页码：229 / 229
页数：1
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