RIN2 syndrome: Expanding the clinical phenotype-Reference-Cited by-同舟云学术

RIN2 syndrome: Expanding the clinical phenotype

Published:2016-06-08 Issue:9 Volume:170 Page:2408-2415
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rosato Simonetta¹,Syx Delfien²,Ivanovski Ivan¹³,Pollazzon Marzia¹,Santodirocco Daniela¹,De Marco Loredana⁴,Beltrami Marina⁵,Callewaert Bert²,Garavelli Livia¹,Malfait Fransiska²

Affiliation:

1. Clinical Genetics Unit; Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS; Reggio Emilia Italy

2. Center for Medical Genetics; Ghent University and Ghent University Hospital; Ghent Belgium

3. Department of Surgical, Medical, Dental and Morphological Sciences with Interest in Transplant; Oncology and Regenerative Medicine, University of Modena and Reggio Emilia; Modena Italy

4. Anatomic Pathology Unit; Arcispedale Santa Maria Nuova-IRCCS; Reggio Emilia Italy

5. Department of Internal Medicine; Arcispedale Santa Maria Nuova-IRCCS; Reggio Emilia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking;Albrecht;Am J Med Genet Part A,2010

2. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2;Aslanger;Am J Med Genet Part A,2014

3. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome;Basel-Vanagaite;Am J Hum Genet,2009

4. A tale of three GTPases and a RIN in endothelial cell adhesion;Fernandez-Borja;Cell Res,2012

5. Involvement of the Ras-Ras-activated Rab5 guanine nucleotide exchange factor RIN2-Rab5 pathway in the hepatocyte growth factor-induced endocytosis of E-cadherin;Kimura;J Biol Chem,2006

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