Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia-Reference-Cited by-同舟云学术

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Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia

Published:2022-10 Issue: Volume:163 Page:116508
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Luo Zhuo-Jing,Li Hongzhuo,Yang Liu,Kang Baoling,Cai Tao

Funder

Ministry of Science and Technology of the People's Republic of China

Program for Changjiang Scholars and Innovative Research Team in University

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference30 articles.

1. Multiple Epiphyseal Dysplasia, Autosomal Dominant;Briggs,1993

2. Multiple Epiphyseal Dysplasia, Recessive;Bonafe,1993

3. Multiple epiphyseal dysplasia and related disorders: molecular genetics, disease mechanisms, and therapeutic avenues;Dennis;Dev. Dyn.,2021

4. Nosology and classification of genetic skeletal disorders: 2019 revision;Mortier;Am. J. Med. Genet. A,2019

5. Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia;Dasa;Am. J. Med. Genet. A,2019

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1. Ubiquitin‐specific peptidases: Players in bone metabolism;Cell Proliferation;2023-03-08

2. Identification of four novel variants in the CDH23 gene from four affected families with hearing loss;Frontiers in Genetics;2022-11-17

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