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Article

[20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report].

Revista medica del Instituto Mexicano del Seguro Social - 8 Jan 2024

Crisanto-López Israel Enrique, García-González Renato, Saldaña-Guerrero María Patricia, Hernández-Camacho Rosa María, Castro-Coyotl Dulce María

Abstract excerpt

Background: 20q11.2 microdeletion syndrome [ORPHA: 444051] is a rare disease, since 16 patients have been reported in literature worldwide. Prevalence ratio is < 1:1,000,000 individuals. Haploinsufficiency on GDF5, SAMHD1 and EPB41L1 genes is important due to phenotypic manifestations in patients. Clinical features can be grouped into craniofacial abnormalities, limb abnormalities, neurological and perinatal...

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Identifiers

PMID: 39116260
DOI: 10.5281/zenodo.10278185

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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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