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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2009 | 1 |
2010 | 2 |
2013 | 1 |
2014 | 1 |
2019 | 1 |
2020 | 1 |
2024 | 0 |
PubMed (cited) for id: 613075
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Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.
Eur J Med Genet. 2020 Jan;63(1):103629. doi: 10.1016/j.ejmg.2019.02.002. Epub 2019 Feb 13.
Eur J Med Genet. 2020.
PMID: 30769224
Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
Aslanger AD, Altunoglu U, Aslanger E, Satkın BN, Uyguner ZO, Kayserili H.
Aslanger AD, et al.
Am J Med Genet A. 2014 Feb;164A(2):484-9. doi: 10.1002/ajmg.a.36277. Epub 2013 Oct 29.
Am J Med Genet A. 2014.
PMID: 24449201
Review.
Item in Clipboard
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
Albrecht B, de Brouwer AP, Lefeber DJ, Cremer K, Hausser I, Rossen N, Wortmann SB, Wevers RA, Kornak U, Morava E.
Albrecht B, et al.
Am J Med Genet A. 2010 Nov;152A(11):2916-8. doi: 10.1002/ajmg.a.33712.
Am J Med Genet A. 2010.
PMID: 20954239
No abstract available.
Item in Clipboard
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).
Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Lê T, Willaert A, Benmansour A, De Paepe A, Verloes A.
Syx D, et al.
Hum Genet. 2010 Jul;128(1):79-88. doi: 10.1007/s00439-010-0829-0. Epub 2010 Apr 28.
Hum Genet. 2010.
PMID: 20424861
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RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E.
Basel-Vanagaite L, et al.
Am J Hum Genet. 2009 Aug;85(2):254-63. doi: 10.1016/j.ajhg.2009.07.001. Epub 2009 Jul 23.
Am J Hum Genet. 2009.
PMID: 19631308
Free PMC article.
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