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Weiss-Kruszka syndrome — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/Weiss-Kruszka_syndrome
License (as archived): CC-BY-SA-4.0
Archived: 2026-10-07T23:37:18.688Z
SHA-256 of the archived text: 1e2a8e6f014ebe3e7ac6ed67b566043cbbba3a6db1179371829ef318e756f43d
Stable URL of this page: https://metraipolis.com/documento/dc_d26cd293de16

How to cite

Weiss-Kruszka syndrome — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/Weiss-Kruszka_syndrome (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_d26cd293de16 (Metraipolis archive dc_d26cd293de16, sha256 1e2a8e6f014ebe3e7ac6ed67b566043cbbba3a6db1179371829ef318e756f43d)

BibTeX

@misc{dcd26cd293de16,
  title = {Weiss-Kruszka syndrome — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/Weiss-Kruszka_syndrome},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_d26cd293de16; sha256 1e2a8e6f014ebe3e7ac6ed67b566043cbbba3a6db1179371829ef318e756f43d},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/Weiss-Kruszka_syndrome. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

Weiss-Kruszka Syndrome (also called WKS, WSKA, or ZNF462 disorder) is a rare genetic disorder caused by haploinsufficiency of the ZNF462 gene. It is characterized by metopic ridging or craniosynostosis, ptosis, nonspecific facial differences, developmental delay, and/or autistic features. As of August 2025, only 53 cases have been reported in medical literature.. About 95% of cases arise from de novo variants not present in either parent, but the condition can be inherited in an autosomal dominant manner. Weiss-Kruszka syndrome is catalogued in the Online Mendelian Inheritance in Man database under OMIM #617371 and #618619.

Tema degli esploratori: scienze della vita e salute (deposito sistematico; categoria «Genetics»).
Fonte: Wikipedia in inglese, voce «Weiss-Kruszka syndrome» — https://en.wikipedia.org/wiki/Weiss-Kruszka_syndrome
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/Weiss-Kruszka_syndrome?action=history).
Licenza: Creative Commons Attribuzione-Condividi allo stesso modo 4.0 (CC BY-SA 4.0) — https://creativecommons.org/licenses/by-sa/4.0/. Il riuso richiede attribuzione e stessa licenza.
Estratto dell'introduzione non modificato nel contenuto; revisione 1373148136, consultata il 2026-10-07T23:18:26.052Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: 205e6ec13e0be521d7694ecf938dacb614662017658abbe090529163c0633ed6