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Further Delineation of Clinical Phenotype of <em>ZMYND11 </em>Variants in Patients with Neurodevelopmental Dysmorphic Syndrome and Hyperinsulinemic Hypoglycemia

2024-01-29

Abstract excerpt

Intellectual disability with speech delay and behavioural abnormalities as well as hypotonia, seizures, feeding difficulties and cra-niofacial dysmorphism are the main symptoms associated with pathogenic variants of ZMYND11 gene. The range of clinical mani-festations of ZMYND phenotype is constantly being expanded by new cases described in the literature. Here, we present 2 previ-ously unreported paediatric patien...

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Literature Corpus work: b78eb167-79f0-5f6e-bb95-e5662a2201f2
DOI: 10.20944/preprints202401.2012.v1

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