An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy

Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15–50% of patients with OFD1 pro...

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Detalles Bibliográficos
Autores principales: Sharma, Sheena, Kalish, Jennifer M., Goldberg, Ethan M., Reynoso, Francis Jeshira, Pradhan, Madhura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5019883/
https://www.ncbi.nlm.nih.gov/pubmed/27651963
http://dx.doi.org/10.1155/2016/3181676

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5019883/
https://www.ncbi.nlm.nih.gov/pubmed/27651963
http://dx.doi.org/10.1155/2016/3181676

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