Articles with "spectrum 3mc" as a keyword



Photo from wikipedia

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum

Sign Up to like & get
recommendations!
Published in 2022 at "Clinical Dysmorphology"

DOI: 10.1097/mcd.0000000000000443

Abstract: The 3MC syndromes types 1–3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial… read more here.

Keywords: molecular findings; findings previously; phenotypic; spectrum 3mc ... See more keywords