Identification of variants in <i>ACAN</i> and <i>PAPSS2</i> leading to spondyloepi(meta)physeal dysplasias in four Chinese families-Reference-Cited by-同舟云学术

Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families

Published:2022-03-09 Issue:5 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Cao Yixuan¹^ORCID,Guan Xin¹,Li Shan¹,Wu Nan²^ORCID,Chen Xiumin¹,Yang Tao¹,Yang Bo²,Zhao Xiuli¹^ORCID

Affiliation:

1. Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine Peking Union Medical College Beijing China

2. Department of Orthopedic Surgery, Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China

Funder

National Key Research and Development Program of China

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1916

Reference34 articles.

1. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred

2. The Different Roles of Aggrecan Interaction Domains

3. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

5. New therapeutic targets in rare genetic skeletal diseases

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