De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy-Reference-Cited by-同舟云学术

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

Published:2018-08-27 Issue:12 Volume:176 Page:2623-2629
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wojcik Monica H.¹²³^ORCID,Okada Kyoko⁴,Prabhu Sanjay P.⁵,Nowakowski Dan W.⁶,Ramsey Keri⁷,Balak Chris⁷^ORCID,Rangasamy Sampath⁷,Brownstein Catherine A.²³,Schmitz-Abe Klaus¹³,Cohen Julie S.⁸,Fatemi Ali⁸⁹,Shi Jiahai¹⁰,Grant Ellen P.¹⁵,Narayanan Vinodh⁷,Ho Hsin-Yi Henry⁴^ORCID,Agrawal Pankaj B.¹²³

Affiliation:

1. Division of Newborn Medicine; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts

2. Division of Genetics and Genomics; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts

3. The Manton Center for Orphan Disease Research; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts

4. Department of Cell Biology and Human Anatomy; University of California Davis School of Medicine; Davis California

5. Neuroradiology Division, Department of Radiology; Boston Children's Hospital, Harvard Medical School; Boston Massachusetts

6. N Molecular Systems, Inc.; Palo Alto California

7. Center for Rare Childhood Disorders; Translational Genomic Research Institute; Phoenix Arizona

8. Division of Neurogenetics, Hugo W. Moser Research Institute; Kennedy Krieger Institute; Baltimore Maryland

9. Departments of Neurology and Pediatrics; Johns Hopkins Medical Institutions; Baltimore Maryland

10. Department of Biomedical Sciences; City University of Hong Kong; Hong Kong Hong Kong SAR

Funder

National Institute of Arthritis and Musculoskeletal and Skin Diseases

National Institute of Child Health and Human Development

National Institute of General Medical Sciences

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40493/fullpdf

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5. Kif26b controls endothelial cell polarity through the Dishevelled/Daam1-dependent planar cell polarity-signaling pathway;Guillabert-Gourgues;Molecular Biology of the Cell,2016

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