[Ataxia-telangiectasia syndrome]. 1971

A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho

UI MeSH Term Description Entries
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001260 Ataxia Telangiectasia An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). Louis-Bar Syndrome,Ataxia Telangiectasia Syndrome,Ataxia-Telangiectasia,Telangiectasia, Cerebello-Oculocutaneous,Louis Bar Syndrome,Syndrome, Ataxia Telangiectasia,Syndrome, Louis-Bar

Related Publications

A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
January 1967, Bulletins et memoires de la Societe francaise d'ophtalmologie,
A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
September 2022, Pediatrics and neonatology,
A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
August 1964, Pediatria polska,
A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
June 1968, Nippon Ganka Gakkai zasshi,
A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
January 1966, Confinia neurologica,
A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
July 1965, Ceskoslovenska pediatrie,
A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
January 1976, Neurologie et psychiatrie,
A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
April 1991, Seminars in hematology,
A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
December 2017, Expert review of clinical immunology,
A Batista da Silva, and A Antonio de Moraes, and J E Gonçalves de Medeiros, and F A Pires, and E Zerlotti Filho
October 1979, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete,
Copied contents to your clipboard!