A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits
Shankarappa B, Prasad V, Kumar S, Rao R, Royal A, Swamy M, Prasad P, Murthy A, Ganesh S, Viswanath B, Jain S, Purushottam M, Thyloth M. A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits. Molecular Syndromology 2024, 1-6. DOI: 10.1159/000541167.Peer-Reviewed Original ResearchOral-facial-digital syndromeOrofacial anomaliesRare syndromeJoubert syndromeOral-facial-digital syndrome type 1Features of Joubert syndromeClinical exome sequencingWild-type alleleRural community clinicsStructural chromosomal abnormalitiesSubstitution of glycineMild developmental delayX-linked dominant inheritanceAutosomal recessive inheritanceMutation databaseChromosomal microarrayDevelopmental deficitsExome sequencingGenetic analysisOrofacial featuresRare subtypeSanger sequencingChromosomal abnormalitiesExon 5Gene c.