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