A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV

Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overl...

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Detalles Bibliográficos
Autores principales: Hussain, Shabir, Nawaz, Shoaib, Khan, Hammal, Acharya, Anushree, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804382/
https://www.ncbi.nlm.nih.gov/pubmed/36039988
http://dx.doi.org/10.1111/ahg.12462

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804382/
https://www.ncbi.nlm.nih.gov/pubmed/36039988
http://dx.doi.org/10.1111/ahg.12462

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