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Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
- Source :
-
Clinical genetics [Clin Genet] 2023 Nov; Vol. 104 (5), pp. 604-606. Date of Electronic Publication: 2023 Jun 25. - Publication Year :
- 2023
-
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.<br /> (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 104
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Report
- Accession number :
- 37356817
- Full Text :
- https://doi.org/10.1111/cge.14396