Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

CDK9 has been considered a candidate gene involved in the CHARGE-like syndrome in a pair of cousins. We report an 8-year-old boy with a strikingly similar phenotype including facial asymmetry, microtia with preauricular tags and bilateral hearing loss, cleft lip and palate, cardiac dysrhythmia, and...

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Detalles Bibliográficos
Autores principales: Nishina, Sachiko, Hosono, Katsuhiro, Ishitani, Shizuka, Kosaki, Kenjiro, Yokoi, Tadashi, Yoshida, Tomoyo, Tomita, Kaoru, Fukami, Maki, Saitsu, Hirotomo, Ogata, Tsutomu, Ishitani, Tohru, Hotta, Yoshihiro, Azuma, Noriyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472910/
https://www.ncbi.nlm.nih.gov/pubmed/33640901
http://dx.doi.org/10.1038/s10038-021-00909-x

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