Case report: Triple A syndrome in a Polish siblings carrying a ultra-rare homozygous variant of the AAAS gene

被引：0
|
作者：
Juscinska, Ewa [1 ]
Pastorczak, Agata [2 ]
Gadzalska, Karolina [1 ]
Jakiel, Paulina [1 ]
Gorzadek, Monika [1 ]
Ploszaj, Tomasz [1 ]
Skoczylas, Sebastian [1 ]
Borowiec, Maciej [1 ]
Zmyslowska, Agnieszka [1 ]
机构：
[1] Med Univ Lodz, Dept Clin Genet, Lodz, Poland
[2] Med Univ Lodz, Dept Genet Predisposit Canc, Lodz, Poland
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32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：
EP05.019
引用
收藏
页码：977 / 977
页数：1
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