Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel <scp><i>GTF2H5</i></scp> homozygous truncating variant-Reference-Cited by-同舟云学术

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Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant

Published:2023-06-25 Issue:5 Volume:104 Page:604-606
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Sorrentino Ugo¹^ORCID,Agosto Caterina²,Benini Franca²,Bertolin Cinzia¹^ORCID,Cassina Matteo¹,Bonadies Luca³^ORCID,Caroppo Francesca⁴,Fortina Anna Belloni⁴,Salviati Leonardo¹

Affiliation:

1. Clinical Genetics Unit, Department of Women's and Children's Health University Hospital of Padova Padova Italy

2. Pediatric Pain and Palliative Care Service, Department of Women's and Children's Health University Hospital of Padova Padova Italy

3. Neonatal Intensive Care Unit, Department of Woman's and Child's Health University Hospital of Padova Padova Italy

4. Pediatric Dermatology Unit, Department of Medicine DIMED University Hospital of Padova Padova Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14396

Reference3 articles.

1. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

2. Trichothiodystrophy group A: A first Japanese patient with a novel homozygous nonsense mutation in theGTF2H5gene

3. A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report

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