Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

doi:10.1038/s41431-024-01619-6

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Article

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

European journal of human genetics : EJHG - 1 Aug 2024

Singh Swati, Nampoothiri Sheela, Narayanan Dhanya Lakshmi, Chaudhry Chakshu, Salvankar Sandesh, Girisha Katta M

Abstract excerpt

Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib po...

Topics

Female
Humans
Male
Alleles
Loss of Function Mutation
Orofaciodigital Syndromes
Phenotype
Cytoskeletal Proteins
Intracellular Signaling Peptides and Proteins

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