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...
Sparad:
Huvudskapare: | , , , , , , , , , , |
---|---|
Materialtyp: | Bok |
Publicerad: |
BMC,
2018-03-01T00:00:00Z.
|
Ämnen: | |
Länkar: | Connect to this object online. |
Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|
Internet
Connect to this object online.3rd Floor Main Library
Signum: |
A1234.567 |
---|---|
Exemplar 1 | Tillgänglig |