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ataxia telangiectasia syndrome

См. также в других словарях:

  • ataxia-telangiectasia syndrome — ataxia telangiectasia; see under ataxia …   Medical dictionary

  • Ataxia telangiectasia and Rad3 related — Identifiers Symbols ATR; FRP1; MEC1; SCKL; SCKL1 External IDs …   Wikipedia

  • Ataxia telangiectasia — Infobox Disease Name = Ataxia Telangiectasia Caption = DiseasesDB = 1025 ICD10 = ICD10|G|11|3|g|10 ICD9 = ICD9|334.8 ICDO = OMIM = 208900 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 691 eMedicine mult = eMedicine2|oph|319 MeshID = D001260 …   Wikipedia

  • ataxia-telangiectasia — See ataxia telangiectasia. * * * an autosomal recessive disorder caused by mutations in the ATM gene (locus: 11q22.3), which is involved in a number of biological functions, including DNA repair and cell cycle control. It is characterized by… …   Medical dictionary

  • síndrome de ataxia-telangiectasia — Eng. Ataxia telangiectasia syndrome Ver síndrome de Louis Bar …   Diccionario de oftalmología

  • ataxia telangiectasia — Louis Bar syndrome; a hereditary autosomal recessive disease in humans characterized by a high frequency of spontaneous chromosomal aberrations, neurological deterioration and susceptibility to various cancers. Ataxia: imbalance of muscle… …   Dictionary of molecular biology

  • Telangiectasia — Classification and external resources ICD 10 G11.3, I …   Wikipedia

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Ataxia — Wobbliness. Ataxia is incoordination and unsteadiness due to the brain’s failure to regulate the body’s posture and regulate the strength and direction of limb movements. Ataxia is usually a consequence of disease in the brain,… …   Medical dictionary

  • Ataxia — For other uses, see Ataxia (disambiguation). Ataxia (from Greek α [used as a negative prefix] + τάξις [order], meaning lack of order ) is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a …   Wikipedia

  • Syndrome de Louis-Bar — Ataxie télangiectasie Ataxie télangiectasie Autre nom Syndrome de Louis Bar Référence MIM …   Wikipédia en Français

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