Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea-Reference-Cited by-同舟云学术

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Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea

Published:2021-06-04 Issue:7 Volume:35 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Lyu Juanjuan¹²^ORCID,Huang Zhuo¹²,Chen Hongbo¹²,Sun Xiaomei¹²,Liu Ying¹²,Yuan Chuanjie¹²,Ye Li¹²,Yu Dan¹²,Wu Jin¹²

Affiliation:

1. Department of Pediatrics West China Second University Hospital Sichuan University Chengdu China

2. Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education West China Second University Hospital Sichuan University Chengdu China

Funder

National Natural Science Foundation of China

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.23862

Reference16 articles.

1. Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report

2. Diagnosis and management of Silver–Russell syndrome: first international consensus statement

3. Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations

4. Congenital Chloride Diarrhea – Novel Mutation in SLC26A3 Gene

5. All-trans-retinoic Acid Increases SLC26A3 DRA (Down-regulated in Adenoma) Expression in Intestinal Epithelial Cells via HNF-1β

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