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Article

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review.

European journal of medical genetics - 1 Oct 2024

van der Laan Liselot, Kleinendorst Lotte, van Hagen Johanna M, Waisfisz Quinten, van Haelst Mieke M

Abstract excerpt

Weiss-Kruszka Syndrome (WSKA) is caused by pathogenic variants in ZNF462 representing a rare autosomal dominant congenital anomaly syndrome. It is characterized by global developmental delay, hypotonia, feeding difficulties, and craniofacial abnormalities, documented in fewer than 30 patients. ZNF462, located on chromosome 9p31.2, is a transcription factor and has an important role during embryonic development...

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PMID: 39069253
DOI: 10.1016/j.ejmg.2024.104964

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