A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report

A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report

Abstract Background Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. Case presentation...

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Bibliographic Details
Main Authors: Shuaimei Liu, Mingchao Zhang, Mengxia Ni, Peiran Zhu, Xinyi Xia
Format: Article
Language:English
Published: BMC 2017-12-01
Series:BMC Pediatrics
Subjects:
Schimke immune-osseous dysplasia
SMARCAL1
Next generation sequencing
Mutation analysis
Online Access:http://link.springer.com/article/10.1186/s12887-017-0968-8

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