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

Chin Med J (Engl). 2019 Jul 20;132(14):1755-1757. doi: 10.1097/CM9.0000000000000316.

Authors

Xue Yu^{1

2}, Rong-Rong Wang¹, Shi-Rui Han^{1

3}, Xiao Bai¹, Xiaerbati Habulieti¹, Yang Sun¹, Li-Wei Sun¹, Han Zhang¹, Amjad Khan^{1

3}, Xue Zhang¹

Affiliations

¹ Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences.
² Key Laboratory of Thalassemia Medicine, Chinese Academy of Medical Sciences, Guangxi Medical University, Nanning, Guangxi 530021, China.
³ The Research Center for Medical Genomics, China Medical University, Shenyang, Liaoning 110001, China.

No abstract available

Publication types

Case Reports

MeSH terms

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

Substances

ARHGAP31 protein, human
Adaptor Proteins, Signal Transducing
Calcium-Binding Proteins
DLL4 protein, human
GTPase-Activating Proteins
Phosphoproteins
Receptor, Notch1

Supplementary concepts

Adams Oliver syndrome