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

BACKGROUND: Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation. Impeded by a lack of natural history, knowledge gained from individual case studies forms the source for a reliab...

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Detalles Bibliográficos
Autores principales: Staretz‐Chacham, Orna, Schlotawa, Lars, Wormser, Ohad, Golan‐Tripto, Inbal, Birk, Ohad S., Ferreira, Carlos R., Dierks, Thomas, Radhakrishnan, Karthikeyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507568/
https://www.ncbi.nlm.nih.gov/pubmed/32048457
http://dx.doi.org/10.1002/mgg3.1167

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