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.
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply