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

Orna Staretz-ChachamLars SchlotawaOhad WormserInbal Golan-TriptoOhad S BirkCarlos R FerreiraThomas DierksKarthikeyan Radhakrishnan

Published in: Molecular genetics & genomic medicine (2020)

The obtained results confirm genotype-phenotype correlation in MSD, expand the spectrum of clinical presentation and are relevant for diagnosis including the extremely rare neonatal severe type of MSD.

Keyphrases

intellectual disability
early onset
replacement therapy