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Article

Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.

American journal of medical genetics. Part A - 1 Jun 2017

Alkhunaizi Ebba, Schrewe Brett, Alizadehfar Reza, Vézina Catherine, Stewart Grant S, Braverman Nancy

Abstract excerpt

3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA...

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Identifiers

PMID: 28432740
DOI: 10.1002/ajmg.a.38208

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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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