[Coffin-Lowry syndrome: Case report in Mexico].

doi:10.5281/zenodo.18715449

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Article

[Coffin-Lowry syndrome: Case report in Mexico].

Revista medica del Instituto Mexicano del Seguro Social - 6 May 2026

Pérez-Peña Ana Karen, Juárez-Melchor Daniela, Hernández-Castañeda Yazmin

Abstract excerpt

Background: Coffin-Lowry syndrome (CLS, OMIM #303600) is an X-linked dominant inherited condition caused by variants in the RPS6KA3 gene located at Xp22.12 and mainly affects men. It is associated with various phenotypes, including dysmorphic facial features, neurodevelopmental impairment, short stature, and skeletal deformities. The objective was to present a case of CLS, describe the clinical manifestations...

Topics

Humans
Male
Child, Preschool
Mexico
Coffin-Lowry Syndrome
Ribosomal Protein S6 Kinases, 90-kDa
Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 42096245
DOI: 10.5281/zenodo.18715449
PMCID: PMC13193627

Genes

RPS6KA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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