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

• Main Authors: Maxime Cadieux-Dion (Author), Nicole P. Safina (Author), Kendra Engleman (Author), Carol Saunders (Author), Elena Repnikova (Author), Nikita Raje (Author), Kristi Canty (Author), Emily Farrow (Author), Neil Miller (Author), Lee Zellmer (Author), Isabelle Thiffault (Author)
• Format: Book
• Published: BMC, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...