A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat‐Wilson syndrome-Reference-Cited by-同舟云学术

A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat‐Wilson syndrome

Published:2020-06-10 Issue:9 Volume:34 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Hu Yuan¹,Peng Qi²³⁴,Ma Keze²⁴⁵,Li Siping²³⁴,Rao Chunbao²³⁴^ORCID,Zhong Baimao¹²⁵,Lu Xiaomei²³⁴^ORCID

Affiliation:

1. Department of Pediatrics Hematology Dongguan Children's Hospital Dongguan China

2. Department of Medical and Molecular Genetics Dongguan Institute of Pediatrics Dongguan China

3. Medical laboratory Dongguan Children's Hospital Dongguan China

4. Key Laboratory for Children's Genetics and Infectious Diseases of Dongguan City Dongguan China

5. Pediatric Intensive Care Unit Dongguan Children's Hospital Dongguan China

Funder

Guangdong Basic and Applied Basic Research Fund Project

Guangdong Natural Science Foundation Project

Medical Scientific Research Foundation of Guangdong Province of China

Key Projects of Science and Technology Plan of Dongguan

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry, medical,Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.23413

Reference26 articles.

1. Mowat-Wilson syndrome

2. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

3. Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients

4. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

5. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

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