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Article

Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant.

BMJ case reports - 7 Dec 2022

Schneeweiss Michelle Robyn, Dale Breanne, Ejaz Resham

Abstract excerpt

TCF20-associated neurodevelopmental disorder (TAND) is a rare and phenotypically variable genetic condition. Common features include intellectual disability, neurobehavioural concerns, postnatal tall stature and hypotonia.Two unrelated early adolescent males were referred to genetics for assessment of developmental delay. The first male of Caucasian descent had a history of autism spectrum disorder (ASD), mitral...

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Identifiers

PMID: 36593604
DOI: 10.1136/bcr-2022-248995
PMCID: PMC9730367

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