Facial clues to the photosensitive trichothiodystrophy phenotype in childhood
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01134-4.pdf
Reference27 articles.
1. Price VH, Odom RB, Ward WH, Jones FT. Trichothiodystrophy: Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Derm. 1980;116:1375–84.
2. Abagge KT, Haupenthal F, Felber GY, Raskin S. PIBIDS syndrome in two Brazilian siblings. BMJ Case Rep. 2018;11:e223744.
3. Belloni Fortina A, Alaibac M, Piaserico S, Peserico A. PIBI(D)S: clinical and molecular characterization of a new case. J Eur Acad Dermatol Venereol. 2001;15:65–9.
4. Botta E, Nardo T, Orioli D, Guglielmino R, Ricotti R, Bondanza S, et al. Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. Hum Mutat. 2009;30:438–45.
5. Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, et al. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat. 2008;29:1194–208.
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1. The face of Non‐photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population;Molecular Genetics & Genomic Medicine;2024-08
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