Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrum-Reference-Cited by-同舟云学术

Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrum

Published:2019-02-07 Issue:3 Volume:83 Page:160-170
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Yang Aram¹,Kim Jinsup¹,Jang Ja‐Hyun²,Lee Chung³,Lee Ji‐Eun⁴,Cho Sung Yoon¹^ORCID,Jin Dong‐Kyu¹

Affiliation:

1. Department of Pediatrics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of Korea

2. Green Cross Genome Yongin‐si Republic of Korea

3. Department of Health Sciences and Technology, SAIHST Sungkyunkwan University Seoul, Samsung Genome Institute, Samsung Medical Center Seoul Republic of Korea

4. Department of Pediatrics, Inha University Hospital Inha University Graduate School of Medicine Incheon Republic of Korea

Funder

Samsung Medical Center

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12298

Reference44 articles.

1. The genotype-phenotype correlation of hereditary multiple exostoses

2. Evaluation of the Anatomic Burden of Patients with Hereditary Multiple Exostoses

3. Hereditary multiple exostoses: A review of clinical appearance and metabolic pattern;Beltrami G.;Clinical Cases in Mineral and Bone Metabolism,2016

4. Multiple osteochondromas

5. Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses

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1. Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas;Molecular Syndromology;2021

2. Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family;Molecular Medicine Reports;2020-07-06