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Article

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.

EMBO molecular medicine - 1 Dec 2016

Montalbano Antonino, Juergensen Lonny, Roeth Ralph, Weiss Birgit, Fukami Maki, Fricke-Otto Susanne, Binder Gerhard, Ogata Tsutomu, Decker Eva, Nuernberg Gudrun, Hassel David, Rappold Gudrun A

Abstract excerpt

Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency are asymptomatic. To elucidate the factors that modify disease severity/penetrance, we studied a three-generation family with SHOX deficiency. The variant p.Phe508Cys of the...

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Identifiers

PMID: 27861128
DOI: 10.15252/emmm.201606623
PMCID: PMC5167135

Genes

SHOX

Variants

Provenance

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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