Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis
Abstract Background Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3, OMIM: 613091) is an autosomal recessive disorder. SRTD3 presents clinically with a narrow thorax, short ribs, shortened tubular bones, and acetabular roof abnormalities. Clinical signs of SRTD3 vary among individu...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2022-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |