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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Autores principales: Chen Cheng (Autor), Xiuxiu Li (Autor), Sheng Zhao (Autor), Qian Feng (Autor), Xiang Ren (Autor), Xinlin Chen (Autor)
Formato: Libro
Publicado: BMC, 2022-03-01T00:00:00Z.
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