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Article

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

American journal of medical genetics. Part A - 1 Nov 2017

Busa Tiffany, Jeraiby Mohammed, Clémenson Alix, Manouvrier Sylvie, Granados Viviana, Philip Nicole, Touraine Renaud

Abstract excerpt

CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in...

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Source

Identifiers

PMID: 28940926
DOI: 10.1002/ajmg.a.38475

Genes

RIPK4

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