A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

Abstract 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...

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Bibliographic Details
Main Authors: Orna Staretz‐Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan‐Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
deafness
developmental delay
dysmorphism
formylglycine‐generating enzyme
hypotonia
lysosomal storage disorders
Online Access:https://doi.org/10.1002/mgg3.1167

Internet

https://doi.org/10.1002/mgg3.1167

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