Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4167295 | The Journal of Pediatrics | 2009 | 6 Pages |
Abstract
SLC19A2 mutation sites in TRMA are heterogeneous; with no regional “hot spots.” TRMA can be caused by heterozygous compound mutations; in these cases, the disorder is found in outbred populations. To the extent that heterozygous patients were ascertained at older ages, a plausible explanation is that if one or more allele(s) is not null, partial function might be preserved. Phenotypic variability may lead to underdiagnosis or diagnostic delay, as the average time between the onset of symptoms and diagnosis was 8 years in this cohort.
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Authors
Anke K. MD, PhD, Inderneel MD, Jill F. BS, Judy PhD, Adam MD, Caterina MD, Robin MD, Luca MD, PhD, Elizabeth MD, Lulu MD, Maria Leticia MD, PhD, Klaas J. MD, Ellis J. MD, PhD,