Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum-Reference-Cited by-同舟云学术

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Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum

Published:2020-01 Issue:1 Volume:63 Page:103629
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Kameli Reyhaneh,Ashrafi Mahmoud Reza,Ehya Farveh,Alizadeh Houman,Hosseinpour Sareh,Garshasbi Masoud,Tavasoli Ali Reza

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference13 articles.

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

2. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2;Aslanger;Am. J. Med. Genet.,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. Small GTP-binding proteins and their role in transport;Goud;Curr. Opin. Cell Biol.,1991

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