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

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

Abstract 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 domin...

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Bibliographic Details
Main Authors: Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault
Format: Article
Language:English
Published: BMC 2018-03-01
Series:BMC Medical Genetics
Subjects:
AEC
Bartsocas–Papas syndrome
CHUK
Cocoon syndrome
1q21.1 microdeletion syndrome
Online Access:http://link.springer.com/article/10.1186/s12881-018-0556-2

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http://link.springer.com/article/10.1186/s12881-018-0556-2

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