Loss-of-function EHMT2 missense mutation as the cause of a Kleefstra-like syndrome

被引：0

作者：

Martinez-Delgado, Beatriz ^{[1
,2
,3
]}

Lopez-Martin, Estrella ^{[1
,2
]}

Kerkhof, Jennifer ^{[4
]}

Baladron, Beatriz ^{[1
,2
]}

Mielu, Lidia ^{[1
,2
]}

Sanchez-Ponce, Diana ^{[1
]}

Bada-Navarro, Ariadna ^{[1
]}

Herrero-Matesanz, Marina ^{[1
]}

Lopez, Lidia ^{[1
,2
]}

Rzasa, Jessica ^{[4
]}

Rots, Dmitrijs ^{[5
]}

Fernandez Prieto, Marta ^{[1
]}

Hernandez-San Miguel, Esther ^{[1
]}

Gomez-Mariano, Gema ^{[1
,2
]}

Marin Reina, Purificacion ^{[6
]}

Cazorla-Calleja, Rosario ^{[2
,7
]}

Javier Alonso, Francisco ^{[1
,2
,3
]}

Kleefstra, Tjitske ^{[5
]}

Posada, Manuel ^{[2
]}

Bermejo-Sanchez, Eva ^{[1
,2
]}

Sadikovic, Bekim ^{[4
]}

Barrero, Maria J. ^{[1
,2
]}

机构：

[1] Inst Rare Dis Res IIER ISCIII, Madrid, Spain

[2] Undiagnosed Dis Program SpainUDP, Madrid, Spain

[3] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain

[4] London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON, Canada

[5] Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands

[6] Univ & Polytech Hosp La Fe, Valencia, Spain

[7] Hosp Univ Puerta de Hierro, Madrid, Spain

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：

P20.019.D

引用

页码：1750 / 1750

页数：1

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