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The Molecular Basis of Oral-Facial-Digital Type I Syndrome 

The Molecular Basis of Oral-Facial-Digital Type I Syndrome
Chapter:
The Molecular Basis of Oral-Facial-Digital Type I Syndrome
Author(s):

Brunella Franco

DOI:
10.1093/med/9780199934522.003.0022
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date: 04 March 2021

Oral-facial-digital type I (OFDI) syndrome is an X-linked dominant male lethal disorder and belongs to the heterogeneous group of developmental disorders known as Oral-facial-digital syndromes (OFDs). OFDI displays malformations of the face, oral cavity and digits. Additional features are represented by CNS abnormalities and cystic kidney. The identification of the responsible gene, named OFD1, allows molecular diagnosis for this disorder. Functional studies have demonstrated that OFD1 is required for primary cilia formation and left-right asymmetry, thus ascribing OFD type I to the growing number of genetic disorders due to primary ciliary dysfunction.

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