Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI-Reference-Cited by-同舟云学术

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Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Published:2019-11-06 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Sun Yixi,Luo Yuqin,Qian Yeqing,Chen Min,Wang Liya,Li Hongge,Zou Yu,Dong Minyue

Funder

National Natural Science Foundation of China

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference44 articles.

1. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands;Benito-Sanz;Hum. Mutat.,2006

2. Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer;Benito-Sanz;J. Med. Genet.,2012

3. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis;Benito-Sanz;Am. J. Hum. Genet.,2005

4. Short stature due to SHOX deficiency: genotype, phenotype, and therapy;Binder;Horm. Res. Paediatr.,2011

5. SHOX Deficiency Disorders;Binder,1993

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1. Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX;European Journal of Human Genetics;2024-06-24

2. Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review;Medicine;2023-10-13

3. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions;The American Journal of Human Genetics;2023-08

4. Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX‐associated skeletal dysplasia;Prenatal Diagnosis;2023-08

5. A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report;Medicine;2023-05-05

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