Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report

Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report

Abstract Background Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly. Recessive mutations in the SLC26A2 gene cause a phenotype of mu...

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Bibliographic Details
Main Authors: Taifeng Zhou, Yongqian Wang, Hang Zhou, Zhiheng Liao, Bo Gao, Deying Su, Shuhui Zheng, Caixia Xu, Peiqiang Su
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genetics
Subjects:
Multiple epiphyseal dysplasia
SLC26A2
Targeted next-generation sequence
Compound heterozygote
Online Access:http://link.springer.com/article/10.1186/s12881-018-0596-7

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http://link.springer.com/article/10.1186/s12881-018-0596-7

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