'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
Svetlana VakkilainenAlice CostantiniMervi TaskinenUlla Wartiovaara-KauttoOuti MäkitiePublished in: Journal of medical genetics (2019)
MDWH can present with severe late-onset extraskeletal manifestations and thus should be reclassified and managed as CHH.
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