- trichothiodystrophy
- A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation.
English dictionary of cancer terms . 2015.
trichothiodystrophy
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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 — noun An autosomal recessive congenital skin disease characterized by a congenital ichthyosiform erythroderma, growth and mental retardation, progeria like facies, and brittle hair … Wiktionary
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
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
