Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity

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 o...

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Detalles Bibliográficos
Autores principales: Aso, Keiko, Soutome, Takehiko, Satoh, Mari, Aoki, Takako, Ogura, Hiromi, Yamamoto, Toshiyuki, Kanno, Hitoshi, Takahashi, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295683/
https://www.ncbi.nlm.nih.gov/pubmed/35865781
http://dx.doi.org/10.1002/ccr3.6070
Descripción
Sumario: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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