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