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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, Orna ; Schlotawa, Lars ; Wormser, Ohad ; Golan-Tripto, Inbal ; Birk, Ohad S ; Ferreira, Carlos R ; Dierks, Thomas ; Radhakrishnan, Karthikeyan
In: Molecular genetics & genomic medicine, Jg. 8 H. 9

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