Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

Orofaciodigital syndrome I (OFD1–MIM #311200) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. OFD1 syndrome is an X-linked dominant disorder reported mostly in females. The gene responsible for this condition, OFD1 centri...

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Detalles Bibliográficos
Autores principales: Papuc, Sorina Mihaela, Erbescu, Alina, Glangher, Adelina, Streata, Ioana, Riza, Anca-Lelia, Budisteanu, Magdalena, Arghir, Aurora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957277/
https://www.ncbi.nlm.nih.gov/pubmed/36833254
http://dx.doi.org/10.3390/genes14020327

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957277/
https://www.ncbi.nlm.nih.gov/pubmed/36833254
http://dx.doi.org/10.3390/genes14020327

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