Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome
Objective: Single-nucleotide polymorphism (SNP) microarrays and whole-exome sequencing (WES) are tools to precisely diagnose rare autosomal recessive (AR) diseases. In this study, SNP chip and WES were used to identify a mutated location in WDR34 in a baby born to consanguineous parents. Case report...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2017-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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