Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report
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2019 ◽
Vol 50
(6)
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pp. 2247-2251
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Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature
2020 ◽
Vol 47
(6)
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pp. 915
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