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Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity.
Aso, Keiko; Soutome, Takehiko; Satoh, Mari; Aoki, Takako; Ogura, Hiromi; Yamamoto, Toshiyuki; Kanno, Hitoshi; Takahashi, Hiroyuki.
Afiliación
  • Aso K; Department of Pediatrics Toho University Omori Medical Center Tokyo Japan.
  • Soutome T; Department of Pediatrics Toho University Omori Medical Center Tokyo Japan.
  • Satoh M; Department of Pediatrics Toho University Omori Medical Center Tokyo Japan.
  • Aoki T; Department of Transfusion Medicine and Cell Processing Tokyo Women's Medical University Tokyo Japan.
  • Ogura H; Department of Transfusion Medicine and Cell Processing Tokyo Women's Medical University Tokyo Japan.
  • Yamamoto T; Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan.
  • Kanno H; Department of Transfusion Medicine and Cell Processing Tokyo Women's Medical University Tokyo Japan.
  • Takahashi H; Department of Pediatrics Toho University Omori Medical Center Tokyo Japan.
Clin Case Rep ; 10(7): e6070, 2022 Jul.
Article en En | MEDLINE | ID: mdl-35865781
ABSTRACT
We report the case of a Filipino girl with autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia caused by homozygous variants in the genes SLC4A1 and ITGA2B within the long homozygous DNA region on chromosome 17q21.31. This haplotype may be retained among individuals of Filipino descent.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Clin Case Rep Año: 2022 Tipo del documento: Article
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Clin Case Rep Año: 2022 Tipo del documento: Article