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Article

Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.

European journal of human genetics : EJHG - 1 Aug 2016

Li Ming, Wang Jianbo, Li Zhenlu, Zhang Jia, Ni Cheng, Cheng Ruhong, Yao Zhirong

Abstract excerpt

Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome in one family. Here, we present a large Chinese family with Basan syndrome; some patients presented with hyperpigmentation and knuckle pads in addition to previously reported...

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Source

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Identifiers

PMID: 26932190
DOI: 10.1038/ejhg.2016.15
PMCID: PMC4989204

Genes

SMARCAD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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