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

Staretz‐Chacham, OrnaOrnaStaretz‐ChachamSchlotawa, LarsLarsSchlotawaWormser, OhadOhadWormserGolan‐Tripto, InbalInbalGolan‐TriptoBirk, Ohad S.Ohad S.BirkFerreira, Carlos R.Carlos R.FerreiraDierks, ThomasThomasDierksRadhakrishnan, KarthikeyanKarthikeyanRadhakrishnan2021-04-142021-04-142020https://resolver.sub.uni-goettingen.de/purl?gro-2/82367enA homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiencyjournal_article10.1002/mgg3.1167