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

Orna Staretz-Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan-Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan

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Medicine & Life Sciences