Article
RIN2 syndrome: Expanding the clinical phenotype.
American journal of medical genetics. Part A - 1 Sept 2016
Rosato Simonetta, Syx Delfien, Ivanovski Ivan, Pollazzon Marzia, Santodirocco Daniela, De Marco Loredana, Beltrami Marina, Callewaert Bert, Garavelli Livia, Malfait Fransiska
Abstract excerpt
Biallelic defects in the RIN2 gene, encoding the Ras and Rab interactor 2 protein, are associated with a rare autosomal recessive connective tissue disorder, with only nine patients from four independent families reported to date. The condition was initially termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis), based on the clinical features of the first identified family; however, with the...
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