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Article

A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.

European journal of medical genetics - 1 Jan 2000

Jain Shailly, Yang Ping, Farrell S A

Abstract excerpt

Nablus mask-like facial syndrome (NMLFS) has been reported in six patients with a recognizable facial appearance, along with other clinical features. Microdeletions of 8q21.3-8q22.1 were identified in all six cases, with the deleted region in common being 8q22.1 (2.78 Mb in length). In this report, we describe a child with speech delay and features of an autistic spectrum disorder and with a 1.6 Mb deletion of...

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Source

Identifiers

PMID: 20074678
DOI: 10.1016/j.ejmg.2009.12.006

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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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