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Article

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

International journal of dermatology - 1 Sept 2023

Wu Ruimiao, Zhong Weilong, Chen Jiaying, Dou Xia

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PMID: 36880456
DOI: 10.1111/ijd.16630

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A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.PMID 36880456Read ↗

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

[A novel PORCN gene mutation in a patient with focal dermal hypoplasia].Semantic proximity Read ↗

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

Novel PORCN mutations in 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 ↗

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.Semantic proximity Read ↗

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

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.Semantic proximity Read ↗

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

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