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Article

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.

American journal of medical genetics. Part A - 1 Jan 2013

Debost-Legrand Anne, Eymard-Pierre Eleonore, Pebrel-Richard Céline, Gouas Laetitia, Goumy Carole, Giollant Michel, Ayed Wiem, Tchirkov Andreï, Francannet Christine, Vago Philippe

Abstract excerpt

Microdeletions of 8q21.3-8q22.1 have been identified in all patients with Nablus mask-like facial syndrome (NMLFS). A recent report of a patient without this specific phenotype presented a 1.6 Mb deletion in this region that partially overlapped with previously reported 8q21.3 microdeletions, thus restricting critical region for this syndrome. We report on another case of an 8q21.3 deletion revealed by array...

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PMID: 23239647
DOI: 10.1002/ajmg.a.35614

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A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.PMID 23239647Read ↗

Nablus mask‐like facial syndrome is caused by a microdeletion of 8q detected by array‐based comparative genomic hybridizationSemantic proximity Read ↗

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Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.Semantic proximity Read ↗

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