Associated Papers
RIN2 syndrome: Expanding the clinical phenotype.
Rosato S et al.
American Journal of Medical Genetics. Part A, 2016
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T et al.
European Journal of Human Genetics : Ejhg, 2014
Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
Aslanger AD et al.
American Journal of Medical Genetics. Part A, 2014
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).
Syx D et al.
Human Genetics, 2010
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Basel-Vanagaite L et al.
American Journal of Human Genetics, 2009
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