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Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis
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 individuals. Pat...
Autores principales: | Cheng, Chen, Li, Xiuxiu, Zhao, Sheng, Feng, Qian, Ren, Xiang, Chen, Xinlin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8917749/ https://www.ncbi.nlm.nih.gov/pubmed/35277174 http://dx.doi.org/10.1186/s12920-022-01205-z |
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