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‘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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Detalles Bibliográficos
Autores principales:	Vakkilainen, Svetlana, Costantini, Alice, Taskinen, Mervi, Wartiovaara-Kautto, Ulla, Mäkitie, Outi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Genotype-Phenotype Correlations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929920/ https://www.ncbi.nlm.nih.gov/pubmed/31413121 http://dx.doi.org/10.1136/jmedgenet-2019-106131

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