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Article

EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.

International journal of molecular sciences - 4 Mar 2024

Kosykh Anastasiya V, Ryumina Irina I, Botkina Alexandra S, Evtushenko Nadezhda A, Zhigmitova Elena B, Martynova Aleksandra A, Gurskaya Nadya G, Rebrikov Denis V

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a dermatological condition marked by skin fragility and blister formation resulting from separation within the basal layer of the epidermis, which can be attributed to various genetic etiologies. This study presents three pathogenic de novo variants in young children, with clinical manifestations appearing as early as the neonatal period. The variants contribute to the EBS...

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Child
Child, Preschool
Epidermis
Epidermolysis Bullosa Simplex
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38474236
DOI: 10.3390/ijms25052989
PMCID: PMC10931735

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