‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestatio...
‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
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Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
BackgroundMetaphyseal 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 characterised by thin hair, immunodeficiency and increas...
Alternative Titles
Full title
‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
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Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_477696
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_477696
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106131
