Associated Papers
RIN2 syndrome: Expanding the clinical phenotype.
Rosato S et al.
American Journal of Medical Genetics. Part A, 2016
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
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
Albrecht B et al.
American Journal of Medical Genetics. Part A, 2010
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
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