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Article

Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2024

Chang Xiaoxia, Ji Chunmin, Zhang Ting, Huang Huan

Abstract excerpt

BACKGROUND: Heat shock protein family A member 9 (HSPA9) prevents unfolded and dysfunctional protein accumulation, with genetic variants known to be pathogenic. Here, we determined the genetic cause of Even-Plus syndrome (OMIM: 616854) in a Chinese family. METHODS: We collected samples from two affected and two normal individuals. Whole-exome sequencing was performed to identify their genetic profiles. Potential...

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Identifiers

PMID: 38281662
DOI: 10.1016/j.cca.2024.117803

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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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