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Article

Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima-Type Palmoplantar Keratoderma.

American journal of medical genetics. Part A - 1 Aug 2025

Kazerooni Lilia, Vogel Benjamin N, Banerjee Abhik K, Jafarpour Saba, Santoro Jonathan D

Abstract excerpt

The authors present the first documented case of concomitant Nagashima-type palmoplantar keratoderma and moyamoya angiopathy, identifying a novel gene as a potential link between rare dermatologic and cerebrovascular diseases. The subject of this case report was identified and clinically evaluated at the Neurological Institute of Children's Hospital Los Angeles. Written informed consent for clinical care, genetic...

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Source

Identifiers

PMID: 40125802
DOI: 10.1002/ajmg.a.64058

Genes

SERPINB7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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