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 and within the long homozygous DNA region on chromosome 17q21.31. This haplotype may be retained among individuals of Filipino descent.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295683 | PMC |
| http://dx.doi.org/10.1002/ccr3.6070 | DOI Listing |
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