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

Tarih

Yazarlar

Samur, Bahadir M.

Gumus, Ummu Gulsum Ozgul

Efthymiou, Stephanie

Caglayan, Ahmet Okay

Yayınevi

Anahtar kelimeler

Joubert syndrome, PIBF1, Developmental delay, Renal cystic dysplasia, Retinal dystrophy, Molar tooth sign, Whole\\-exome sequencing

URI

https://openaccess.acibadem.edu.tr/handle/11443/5369

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