A novel compound heterozygous mutation of the SMARCAL1 gene...

BMC Pediatrics 2017 / 12 Vol. 17; Iss. 1

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

Liu, Shuaimei, Zhang, Mingchao, Ni, Mengxia, Zhu, Peiran, Xia, Xinyi
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Volume:
17
Language:
english
Journal:
BMC Pediatrics
DOI:
10.1186/s12887-017-0968-8
Date:
December, 2017
File:
PDF, 1.02 MB
english, 2017
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