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

页数：3

共 50 条

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