A novel COLEC10 mutation in a child with 3MC syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104374
Abstract: 3MC syndrome is an autosomal recessive disorder encompassing four rare disorders previously known as the Malpuech, Michels, Mingarelli and Carnevale syndromes. They are characterized by a variable spectrum of abnormalities, including facial dysmorphisms, along with… read more here.
Keywords: mutation child; child 3mc; 3mc syndrome; novel colec10 ... See more keywords
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum
Sign Up to like & getrecommendations! 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