Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis

• 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.
• Materias: article
• Acceso en línea: Connect to this object online.

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...