Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
Clin Genet
; 104(5): 604-606, 2023 11.
Article
de En
| MEDLINE
| ID: mdl-37356817
ABSTRACT
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Trichothiodystrophies
Limites:
Humans
/
Male
/
Newborn
Langue:
En
Journal:
Clin Genet
Année:
2023
Type de document:
Article
Pays d'affiliation:
Italie