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...

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Detalles Bibliográficos
Autores principales: Cheng, Chen, Li, Xiuxiu, Zhao, Sheng, Feng, Qian, Ren, Xiang, Chen, Xinlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
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

Internet

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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