‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations

BACKGROUND: Metaphyseal dysplasia without hypotrichosis (MDWH) is a rare form of chondrodysplasia with no extraskeletal manifestations. MDWH is caused by RMRP mutations, but it is differentiated from the allelic condition cartilage-hair hypoplasia (CHH), which in addition to chondrodysplasia is char...

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Опубликовано в: :J Med Genet
Главные авторы: Vakkilainen, Svetlana, Costantini, Alice, Taskinen, Mervi, Wartiovaara-Kautto, Ulla, Mäkitie, Outi
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Publishing Group 2020
Предметы:
Genotype-Phenotype Correlations
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6929920/
https://ncbi.nlm.nih.gov/pubmed/31413121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106131
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