Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome-Reference-Cited by-同舟云学术

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome

Published:2020-07-14 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:

Zhang Chuan¹²³^ORCID,Hao Shengju³,Zhang Qinghua³,Liu Furong³,Zhou Bingbo³,Xuan Feng³,Xing Wang³,Chen Xue³,Wang Yan³,Ma Panpan³,Cao Zongfu¹²,Ma Xu¹²

Affiliation:

1. Graduate School of Peking Union Medical College Beijing China

2. National Research Institute for Family Planning National Human Genetic Resources Center Beijing China

3. Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health Care Hospital Lanzhou China

Funder

Non-profit Central Research Institute Fund of National Research Institute For Family Planing

Gansu Natural Science Foundation

The National Key Research and Development Program 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.23407

Reference25 articles.

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

2. Use of multiple ligation‐dependent probe amplification in Silver‐Russell syndrome;Eggermann T;ClinGenet,2008

3. Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

4. Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

5. Methylation profiling in individuals with Russell-Silver syndrome

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