Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33

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dc.contributor.authorAynekin, Busra
dc.contributor.authorSamur, Bahadir M.
dc.contributor.authorGumus, Ummu Gulsum Ozgul
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorGulec, Ayten
dc.contributor.authorEfthymiou, Stephanie
dc.contributor.authorGumus, Hakan
dc.contributor.authorCaglayan, Ahmet Okay
dc.contributor.authorPer, Huseyin
dc.date.accessioned2025-10-16T15:12:19Z
dc.date.issued2025
dc.identifier.doi10.1159/000543107
dc.identifier.otherWOS:001415458000001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/5369
dc.publisherKARGER
dc.sourceMOLECULAR SYNDROMOLOGY
dc.subjectJoubert syndrome
dc.subjectPIBF1
dc.subjectDevelopmental delay
dc.subjectRenal cystic dysplasia
dc.subjectRetinal dystrophy
dc.subjectMolar tooth sign
dc.subjectWhole\\-exome sequencing
dc.titleNovel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
dc.typeArticle

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