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Article

Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.

American journal of medical genetics. Part A - 1 Dec 2024

Mitrakos A, Kekou K, Tilemis F-N, Svingou M, Papadimas G, Sofocleous C, Traeger-Synodinos J, Tzetis M

Abstract excerpt

Nablus mask-like facial syndrome (NMLFS) is a rare condition characterized by unique facial features, initially described in a 4-year-old boy from Nablus, Palestine. These features include expressionless facial appearance, tight facial skin, blepharophimosis, sparse eyebrows, and a flat nose. Genetic studies have identified a deletion of 8q22.1 as the cause of the syndrome, however while 26 patients have been...

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Identifiers

PMID: 39037278
DOI: 10.1002/ajmg.a.63826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.PMID 39037278Read ↗

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