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Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9957277

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

About this item

Full title

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

Publisher

Switzerland: MDPI AG

Journal title

Genes, 2023-01, Vol.14 (2), p.327

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

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 centriole and centriolar satellite protein (
), is in...

Alternative Titles

Full title

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9957277

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9957277

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes14020327

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