Novel Co‐Occurrence of Trisomy 21 and Heterozygous CFTR Mutation
ABSTRACT The coexistence of trisomy 21 and cystic fibrosis (CF) is extremely rare, with fewer than 10 reported cases, all involving homozygous CFTR mutations. However, the impact of a heterozygous CFTR mutation in a patient with trisomy 21 remains unexplored. We present a male infant with trisomy 21...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-04-01
|
| Series: | Respirology Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/rcr2.70185 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|