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Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings

Trichothiodystrophy (TTD) is characterized by the common feature of sulfur-deficient brittle hair associated with a constellation of neuroectodermal symptoms. There is a wide phenotypic variation in the severity; ranging from isolated hair defect to multiple neuroectodermal symptoms such as photosen...

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Detalles Bibliográficos
Autores principales: Kaur, Jasleen, Bhalla, Mala, Thami, Gurvinder Pal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029003/
https://www.ncbi.nlm.nih.gov/pubmed/30034195
http://dx.doi.org/10.4103/ijt.ijt_63_17