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A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey.

International journal of dermatology - 1 Sept 2024

İmren Işıl Göğem, Ertürk Sevilay, Çetin Gökhan Ozan, Kaçar Nida

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Identifiers

PMID: 38647179
DOI: 10.1111/ijd.17175

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Related research

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Research trail→

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A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey.PMID 38647179Read ↗

A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.Semantic proximity Read ↗

A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.Semantic proximity Read ↗

A Japanese case of Mal de Meleda with SLURP1 mutation.Semantic proximity Read ↗

A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.Semantic proximity Read ↗

Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.Semantic proximity Read ↗

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.Semantic proximity Read ↗

A novel mutation in CDSN causes peeling skin disease in a patient from Morocco.Semantic proximity Read ↗

Mutations in the gene encoding SLURP-1 in Mal de Meleda.Semantic proximity Read ↗

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.Semantic proximity Read ↗

A Rare Mutation in TRRAP Gene and the Expanded New Phenotype.Semantic proximity Read ↗

A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family.Semantic proximity Read ↗

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).Semantic proximity Read ↗

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