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Article

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

American journal of medical genetics. Part A - 1 Oct 2012

Tully Hannah M, Dempsey Jennifer C, Ishak Gisele E, Adam Margaret P, Curry Cynthia J R, Sanchez-Lara Pedro, Hunter Alasdair, Gripp Karen W, Allanson Judith, Cunniff Christopher, Glass Ian, Millen Kathleen J, Doherty Daniel, Dobyns William B

Abstract excerpt

Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (H...

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Identifiers

PMID: 22965664
DOI: 10.1002/ajmg.a.35561
PMCID: PMC3448816

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22965664-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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