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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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
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author Aso, Keiko
Soutome, Takehiko
Satoh, Mari
Aoki, Takako
Ogura, Hiromi
Yamamoto, Toshiyuki
Kanno, Hitoshi
Takahashi, Hiroyuki
author_facet Aso, Keiko
Soutome, Takehiko
Satoh, Mari
Aoki, Takako
Ogura, Hiromi
Yamamoto, Toshiyuki
Kanno, Hitoshi
Takahashi, Hiroyuki
author_sort Aso, Keiko
collection PubMed
description 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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spelling pubmed-92956832022-07-20 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 Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-07-19 /pmc/articles/PMC9295683/ /pubmed/35865781 http://dx.doi.org/10.1002/ccr3.6070 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Aso, Keiko
Soutome, Takehiko
Satoh, Mari
Aoki, Takako
Ogura, Hiromi
Yamamoto, Toshiyuki
Kanno, Hitoshi
Takahashi, Hiroyuki
Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity
title Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity
title_full Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity
title_fullStr Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity
title_full_unstemmed Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity
title_short Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity
title_sort association of autosomal‐recessive‐type distal renal tubular acidosis and glanzmann thrombasthenia as a consequence of runs of homozygosity
topic Case Report
url 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
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