Article

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

2023-01-21

Abstract excerpt

Mutations in the Ankyrin Repeat Domain 11 ( ANKRD11 ) gene are associated with KBG syndrome, a developmental disability that affects multiple organ systems and presents with a variety of skeletal, cardiac, gastrointestinal, and neuropsychiatric manifestations. The function of ANKRD11 in human growth and development is not well understood, but its importance is established by the fact that constitutive or condition...

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Literature Corpus work: 8605fea7-1555-5a73-b8a1-7c992ffcf879
DOI: 10.1101/2023.01.17.23284321

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