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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Bibliographic Details
Main Authors: Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/14/2/327