trichothiodystrophy

trichothiodystrophy
An autosomal-recessive congenital skin disease characterized by a congenital ichthyosiform erythroderma, growth and mental retardation, progeria-like facies, and brittle hair.
Syn: brittle hair syndrome, IBIDS syndrome

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  • trichothiodystrophy — trichothiodystrophy. См. трихотиодистрофия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Trichothiodystrophy — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 13341 ICD10 = ICD10|Q|84|1|q|80 ICD9 = ICDO = OMIM = 601675 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D054463 Trichothiodystrophy is a rare genetic condition caused by mutations …   Wikipedia

  • trichothiodystrophy — Congenital brittle hair resulting from low sulfur containing amino acid (cysteine) content sometimes associated with mental impairment and short stature; autosomal recessive inheritance. [tricho + …   Medical dictionary

  • trichothiodystrophy — A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation …   English dictionary of cancer terms

  • трихотиодистрофия — trichothiodystrophy трихотиодистрофия. НЗЧ, характеризующееся ломкостью волос на голове (основной тест симптом), а также умственной отсталостью, ихтиозом, дисплазией ногтей и черепно лицевыми аномалиями; наследуется по аутосомно рецессивному типу …   Молекулярная биология и генетика. Толковый словарь.

  • Tay syndrome — Infobox Disease Name = Tay syndrome Caption = DiseasesDB = 13341 ICD10 = ICD9 = ICDO = OMIM = 601675 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Tay syndrome is a recessive hereditary disease characterised by trichothiodystrophy… …   Wikipedia

  • GTF2H5 — General transcription factor IIH, polypeptide 5, also known as GTF2H5, is a human gene.cite web | title = Entrez Gene: GTF2H5 general transcription factor IIH, polypeptide 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene… …   Wikipedia

  • List of diseases (T) — A list of diseases in the English wikipedia.DiseasesTOC T Tc* T cell immunodeficiency primary * Tabatznik syndrome * Tachycardia * Taeniasis * Takayasu arteritis * Talipes equinovarus * Tamari Goodman syndrome * Tang Hsi Ryu syndrome * Tangier… …   Wikipedia

  • XPB — (Xeroderma Pigmentosum B) is an ATP dependent human DNA helicase that is a part of the TFIIH transcription factor complex. tructureThe 3D structure of the archeael homologue of XPB has been solved by X ray crystallography by Dr. John Tainer and… …   Wikipedia

  • DNA repair-deficiency disorder — Classification and external resources MeSH D049914 A DNA repair deficiency disorder is a medical condition due to reduced functionality of DNA repair. DNA repair defects are seen in nearly all of the diseases described as accelerated aging… …   Wikipedia

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