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Article

Syringocystadenoma papilliferum in a patient with focal dermal hypoplasia due to a novel PORCN mutation.

Archives of dermatology - 1 Feb 2009

Schaffer Julie V, Cantatore-Francis Julie L, Shin Helen T, Rosenman Karla S

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19221286
DOI: 10.1001/archdermatol.2008.569

Genes

PORCN

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Related research

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Syringocystadenoma papilliferum in a patient with focal dermal hypoplasia due to a novel PORCN mutation.PMID 19221286Read ↗

A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.Semantic proximity Read ↗

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.Semantic proximity Read ↗

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.Semantic proximity Read ↗

[Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form].Semantic proximity Read ↗

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.Semantic proximity Read ↗

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.Semantic proximity Read ↗

PORCN gene mutations and the protean nature of focal dermal hypoplasia.Semantic proximity Read ↗

Goltz syndrome and PORCN mosaicism.Semantic proximity Read ↗

A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes.Semantic proximity Read ↗

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A possible role for second-hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus.Semantic proximity Read ↗

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