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Article

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

American journal of medical genetics. Part A - 1 Feb 2023

Kaymak Didem, Alpay Verda, Davutoğlu Ebru Alıcı, Elçi Oguzhan, Yiğin Aysel Kalaycı, Tüysüz Beyhan, Madazlı Riza

Abstract excerpt

Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a congenital disease of glycosylation (CDG) linked to the ALG9 gene. GIKANIS is a lethal disorder characterized by atypical facial features, generalized skeletal changes with shortening of the long bones with broad, round metaphyses, round ilia, and deficient ossification of the skull, cervical spine and pubic bones, and visceral abnormalities including...

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Identifiers

PMID: 36326140
DOI: 10.1002/ajmg.a.63024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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