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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-01-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/14/2/327 |