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Article

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

American journal of medical genetics. Part A - 1 Jan 2020

Dudoignon Benjamin, Huber Celine, Michot Caroline, Di Rocco Federico, Girard Muriel, Lyonnet Stanislas, Rio Marlène, Rabia Smail Hadj, Daire Valérie Cormier, Baujat Geneviève

Abstract excerpt

RATIONALE: Adams-Oliver syndrome (AOS) is a genetic disorder characterized by the association of aplasia cutis congenita (ACC), terminal transverse limb defect (TTLD), congenital cardiac malformation (CCM), and minor features, such as cutaneous, neurological, and hepatic abnormalities (HAs). The aim of the study is to emphasize phenotype-genotype correlations in AOS. METHODS: We studied 29 AOS patients. We...

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Identifiers

PMID: 31654484
DOI: 10.1002/ajmg.a.61364

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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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