Tufted hair at birth: A previously undescribed peculiar sign of trichothiodystrophy-Reference-Cited by-同舟云学术

Tufted hair at birth: A previously undescribed peculiar sign of trichothiodystrophy

Published:2023-11-21 Issue: Volume: Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:Acad Dermatol Venereol

Author:

Diociaiuti A.¹^ORCID,Carnevale C.¹^ORCID,Bassi A.²^ORCID,Rossi S.³^ORCID,Pisaneschi E.⁴,Zambruno G.⁵,El Hachem M.¹^ORCID

Affiliation:

1. Dermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division Bambino Gesù Children's Hospital, IRCCS Rome Italy

2. Division of Dermatology Azienda USL Toscana Nord Ovest Lucca Italy

3. Pathology Unit and Predictive Molecular Pathology Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

4. Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

5. Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division Bambino Gesù Children's Hospital, IRCCS Rome Italy

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.19632

Reference10 articles.

1. Trichothiodystrophy: From basic mechanisms to clinical implications

2. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

3. Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS

4. Trichothiodystrophy and Chiari malformation type I in a child: more than a coincidence?

5. Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy