Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest

被引：0
|
作者：
Rattanapornsompong, Khanti [1 ]
Chetruengchai, Wanna [2 ,3 ]
Srichomthong, Chalurmpon [2 ,3 ]
Theerapanon, Thanakorn [1 ]
Porntaveetus, Thantrira [1 ,4 ]
Shotelersuk, Vorasuk [2 ,3 ]
机构：
[1] Chulalongkorn Univ, Fac Dent, Ctr Excellence Genom & Precis Dent, Dept Physiol,Geriatr Dent & Special Patients Care, Bangkok, Thailand
[2] Chulalongkorn Univ, Fac Med, Ctr Excellence Med Genom, Dept Pediat, Bangkok, Thailand
[3] King Chulalongkorn Mem Hosp, Excellence Ctr Genom & Precis Med, Bangkok, Thailand
[4] Chulalongkorn Univ, Ctr Excellence Genom & Precis Dent, Bangkok, Thailand
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2024年 / 194卷 / 06期
关键词：
CHONDROMATOSIS;
D O I：
10.1002/ajmg.a.63557
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：3
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