RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report

BACKGROUND: Intronic variants outside the canonical splice site are challenging to interpret and therefore likely represent an underreported cause of human disease. Autosomal recessive variants in DYNC2H1 are associated with short‐rib thoracic dysplasia 3 with or without polydactyly (SRTD3), a clini...

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Detalles Bibliográficos
Autores principales: Marshall, Aren E., MacDonald, Stella K., Liang, Yijing, Couse, Madeline, Boycott, Kym M., Richer, Julie, Kernohan, Kristin D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568379/
https://www.ncbi.nlm.nih.gov/pubmed/37489014
http://dx.doi.org/10.1002/mgg3.2247

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568379/
https://www.ncbi.nlm.nih.gov/pubmed/37489014
http://dx.doi.org/10.1002/mgg3.2247

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