A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions

Klausegger, Alfred; Leditzky, Fabian; Krämer, Susanne; Palisson, Francis; Yubero, María; Véliz, Sebastián; Koh, Mark; Tan, Ene-Choo; Laimer, Martin; Wolfgang, Johann; Fuentes, Ignacia

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A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions

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A Novel Homozygous 9385 bp Deletion in the FERMT1.pdf (1.75 MB)

Date

2025

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Article

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Artículos Medicina y Ciencias de la Salud

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https://doi.org/10.3390/ijms26094237

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https://hdl.handle.net/11447/10960

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Abstract

Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, p...

Citation

Klausegger A, Leditzky F, Krämer S, Palisson F, Yubero MJ, Véliz S, Koh MJA, Tan EC, Laimer M, Bauer JW, Fuentes I. A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions. Int J Mol Sci. 2025 Apr 29;26(9):4237. doi: 10.3390/ijms26094237.

Keywords

FERMT1 , Kindler Epidermolysis bullosa , Amelogenesis imperfecta , Deletion , Poikiloderma

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