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

2020 | journal article. A publication with affiliation to the University of Göttingen.

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​A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency​
Staretz‐Chacham, O.; Schlotawa, L.; Wormser, O.; Golan‐Tripto, I.; Birk, O. S.; Ferreira, C. R. & Dierks, T. et al.​ (2020) 
Molecular Genetics & Genomic Medicine8(9).​ DOI: https://doi.org/10.1002/mgg3.1167 

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Authors
Staretz‐Chacham, Orna; Schlotawa, Lars; Wormser, Ohad; Golan‐Tripto, Inbal; Birk, Ohad S.; Ferreira, Carlos R.; Dierks, Thomas; Radhakrishnan, Karthikeyan
Issue Date
2020
Journal
Molecular Genetics & Genomic Medicine 
ISSN
2324-9269
eISSN
2324-9269
Language
English

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