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Article

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.

American journal of medical genetics. Part A - 1 Sept 2023

Kierzkowska Ola, Sarino Kathleen, Carter Drake, Guo Lily, Marchi Elaine, Voronova Anastassia, Lyon Gholson J

Abstract excerpt

Ankyrin Repeat Domain 11 (ANKRD11) gene mutations are associated with KBG syndrome, a developmental disability that affects multiple organ systems. The function of ANKRD11 in human growth and development is not clear, but gene knockout or mutation are lethal in mice embryos and/or pups. In addition, it plays a vital role in chromatin regulation and transcription. Individuals with KBG syndrome are often...

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PMID: 37226940
DOI: 10.1002/ajmg.a.63311

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Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.PMID 37226940Read ↗

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