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Article

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.

BMC medical genetics - 9 Mar 2018

Cadieux-Dion Maxime, Safina Nicole P, Engleman Kendra, Saunders Carol, Repnikova Elena, Raje Nikita, Canty Kristi, Farrow Emily, Miller Neil, Zellmer Lee, Thiffault Isabelle

Abstract excerpt

BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29523099
DOI: 10.1186/s12881-018-0556-2
PMCID: PMC5845372

Genes

CHUK
RIPK4

Variants

Provenance

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