Articles with "mows patients" as a keyword



Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome

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Published in 2017 at "Scientific Reports"

DOI: 10.1038/srep46565

Abstract: Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly,… read more here.

Keywords: collagen; zeb2; mowat wilson; wilson syndrome ... See more keywords