Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia

Clin Exp Dermatol. 2020 Aug;45(6):793-795. doi: 10.1111/ced.14223. Epub 2020 May 2.

Authors

K P Verma¹, S J Robertson², I M Winship^{1

3}

Affiliations

¹ Department of Genomic Medicine and Parkville Familial Cancer Centre, Royal Melbourne Hospital, Melbourne, Australia.
² Department of Dermatology, Royal Melbourne Hospital, Melbourne, Australia.
³ Department of Medicine, University of Melbourne, Melbourne, Australia.

PMID: 32359087
DOI: 10.1111/ced.14223

No abstract available

Publication types

Case Reports

MeSH terms

Adolescent
Adult
Autopsy / methods
Ectodermal Dysplasia / diagnosis
Ectodermal Dysplasia / genetics*
Ectodermal Dysplasia / pathology
Failure to Thrive / diagnosis
Failure to Thrive / etiology
Failure to Thrive / genetics
Female
Genotype
Humans
Infant
Integrin alpha6 / genetics*
Integrin beta4 / genetics*
Lebanon / epidemiology
Male
Microscopy, Electron / methods
Nail Diseases / pathology
Nail Diseases / surgery
Protein-Losing Enteropathies / diagnosis
Protein-Losing Enteropathies / etiology
Protein-Losing Enteropathies / therapy*
Sepsis / diagnosis
Sepsis / etiology
Siblings

Substances

ITGA6 protein, human
ITGB4 protein, human
Integrin alpha6
Integrin beta4

Supplementary concepts

Epidermolysis bullosa with pyloric atresia