A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome

Journal article

Open access

Peer reviewed

Xue Yu, Rong-Rong Wang, Shi-Rui Han, Xiao Bai, Xiaerbati Habulieti, Yang Sun, Li-Wei Sun, Han Zhang, Amjad Khan and Xue Zhang

Chinese medical journal, Vol.132(14), pp.1755-1757

20/07/2019

PMCID: PMC6759108

PMID: 31261205

Abstract

Adaptor Proteins, Signal Transducing - genetics

Calcium-Binding Proteins - genetics

Child, Preschool

Ectodermal Dysplasia - genetics

Female

GTPase-Activating Proteins - genetics

Humans

Limb Deformities, Congenital - genetics

Mutation, Missense - genetics

Phosphoproteins - genetics

Receptor, Notch1 - genetics

Scalp Dermatoses - congenital

Scalp Dermatoses - genetics

url

https://doi.org/10.1097/CM9.0000000000000316View

Published (Version of record) Open

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Title: A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome
Creators - without role: Xue Yu - Chinese Academy of Medical Sciences & Peking Union Medical College
Rong-Rong Wang - Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences
Shi-Rui Han - The Research Center for Medical Genomics, China Medical University, Shenyang, Liaoning 110001, China
Xiao Bai - Chinese Academy of Medical Sciences & Peking Union Medical College
Xiaerbati Habulieti - Chinese Academy of Medical Sciences & Peking Union Medical College
Yang Sun - Chinese Academy of Medical Sciences & Peking Union Medical College
Li-Wei Sun - Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences
Han Zhang - Chinese Academy of Medical Sciences & Peking Union Medical College
Amjad Khan - Chinese Academy of Medical Sciences & Peking Union Medical College
Xue Zhang - Chinese Academy of Medical Sciences & Peking Union Medical College
Publication Details: Chinese medical journal, Vol.132(14), pp.1755-1757
Identifiers: 9921083608331
Academic Unit: King Abdulaziz University; King Saud Bin Abdulaziz University for Health Sciences
Language: English
Resource Type: Journal article