Article
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Molecular genetics & genomic medicine - 1 Sept 2020
Staretz-Chacham Orna, Schlotawa Lars, Wormser Ohad, Golan-Tripto Inbal, Birk Ohad S, Ferreira Carlos R, Dierks Thomas, Radhakrishnan Karthikeyan
Abstract excerpt
BACKGROUND: Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation. Impeded by a lack of natural history, knowledge gained from individual case studies forms the source for a reliable diagnosis and consultation of patients and parents. METHODS: We collected clinical records as well as genetic and...
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