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Article

Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.

American journal of medical genetics. Part A - 1 Nov 2022

Lukas Meyer-Landolt, Harald Gaspar, Sanz Javier, Trippel Mafalda, Sabina Gallati, Jochen Rössler

Abstract excerpt

Aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD) are the characteristic findings of Adams-Oliver syndrome (AOS). The variable clinical spectrum further includes cardiac, neurologic, renal, and ophthalmological findings. Associated genes in AOS are in the Notch and the CDC42/Rac1 signaling pathways. Both autosomal-dominant and autosomal-recessive inheritances have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36059114
DOI: 10.1002/ajmg.a.62961
PMCID: PMC9826191

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