Cystic cerebellar dysplasia and biallelicLAMA1mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects-Reference-Cited by-同舟云学术

Cystic cerebellar dysplasia and biallelicLAMA1mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

Published:2016-01-13 Issue:5 Volume:53 Page:318-329
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Vilboux Thierry,Malicdan May Christine V,Chang Yun Min,Guo Jennifer,Zerfas Patricia M,Stephen Joshi,Cullinane Andrew R,Bryant Joy,Fischer Roxanne,Brooks Brian P,Zein Wadih M,Wiggs Edythe A,Zalewski Christopher K,Poretti Andrea,Bryan Melanie M,Vemulapalli Meghana,Mullikin James C,Kirby Martha,Anderson Stacie M,Huizing Marjan,Toro Camilo,Gahl William A,Gunay-Aygun Meral,

Publisher

BMJ

Subject

Genetics (clinical),Genetics

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3. Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells;Knoll;Circulation,2007

4. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities;Radmanesh;Am J Hum Genet,2013

5. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders;Hasselbacher;Kidney Int,2006

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