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Article

Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report.

Molecular genetics and genomics : MGG - 1 Nov 2022

Paine Suman Kalyan, Das Subrata, Bhattacharyya Chandrika, Biswas Nidhan Kumar, Rao Raghavendra, De Abhishek, Basu Analabha

Abstract excerpt

Epidermolysis-Bullosa (EB), a rare Mendelian disorder, exhibits complex phenotypic and locus-heterogeneity. We identified a nuclear family of clinically unaffected parents with two offsprings manifesting EB-Pyloric-Atresia (EB-PA), with a variable clinical severity. We generated whole exome sequence data on all four individuals to (1) identify the causal mutation behind EB-PA (2) understand the background genetic...

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Identifiers

PMID: 35997841
DOI: 10.1007/s00438-022-01941-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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