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Article

Establishing a reference group for distal 18q-: clinical description and molecular basis.

Human genetics - 1 Feb 2014

Cody Jannine D, Hasi Minire, Soileau Bridgette, Heard Patricia, Carter Erika, Sebold Courtney, O'Donnell Louise, Perry Brian, Stratton Robert F, Hale Daniel E

Abstract excerpt

Although constitutional chromosome abnormalities have been recognized since the 1960s, clinical characterization and development of treatment options have been hampered by their obvious genetic complexity and relative rarity. Additionally, deletions of 18q are particularly heterogeneous, with no...

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Identifiers

PMID: 24092497
DOI: 10.1007/s00439-013-1364-6
PMCID: PMC3947160

Genes

NETO1
TSHZ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24092497-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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