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Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.

Human mutation - 1 May 2020

Vahidnezhad Hassan, Youssefian Leila, Sotoudeh Soheila, Liu Lu, Guy Alyson, Lovell Patricia A, Kariminejad Ariana, Zeinali Sirous, McGrath John A, Uitto Jouni

Abstract excerpt

Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal fragility, referred by several major medical centers, one patient was found by NGS to have two overlapping heritable skin diseases, recessive dystrophic...

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PMID: 31930626
DOI: 10.1002/humu.23980

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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