A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.

Lassana CisséAbdoulaye YalcouyéKadidia Oumar TouréYoulouza CoulibalyAlassane Baneye Maiga Salia BambaDramane DialloSalimata DiarraAbdoulaye TamégaOumou TraoréMahamadou KotioumbéMoussa Aly SangaréHamidou Oumar BaAssiatou SimagaFatogoma Issa KonéOumar SamassekouAmadou KonéCheick Oumar GuintoGuida Landourénull null

Published in: Clinical case reports (2024)

gene causing a severe phenotype of CCD in a Malian girl.

Keyphrases

copy number
genome wide
genome wide identification
transcription factor
dna methylation
gene expression