A novel COLEC10 mutation in a child with 3MC syndrome.
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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