Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy-Reference-Cited by-同舟云学术

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Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy

Published:2016-07-30 Issue:1 Volume:84 Page:89-90
ISSN:0019-5456
Container-title:The Indian Journal of Pediatrics
language:en
Short-container-title:Indian J Pediatr

Author:

Farmaki Evangelia,Nedelkopoulou Natalia,Delli Florentina,Sarafidis Kosmas,Zafeiriou Dimitrios I.

Funder

None

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s12098-016-2209-9.pdf

Reference2 articles.

1. Faghri S, Tamura D, Kraemer KH, DiGiovanna JJ. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet. 2008;45:609–21.

2. Morice-Picard F, Cario-Andre M, Rezvani H, Lacombe D, Sarasin A, Taieb A. New clinico-genetic classification of trichothiodystrophy. Am J Med Genet A. 2009;9:2020–30.

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1. TFIIH central activity in nucleotide excision repair to prevent disease;DNA Repair;2023-12

2. Facial clues to the photosensitive trichothiodystrophy phenotype in childhood;Journal of Human Genetics;2023-02-22

3. Solving the Riddle of Developmental Delay with Hair Microscopy: Trichothiodystrophy (MPLKIP Mutation in an Indian Child);Neurology India;2022

4. A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report;European Journal of Medical Genetics;2019-09

5. Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients;PLOS ONE;2018-02-16

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