Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

Kimberly A. Aldinger; Nancy J. Mendelsohn; Brian H.Y. Chung; Wenjuan Zhang; Daniel H. Cohn; Bridget Fernandez; Fowzan S. Alkuraya; William B. Dobyns; Cynthia J. Curry

doi:10.1136/jmedgenet-2015-103476

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

Kimberly A. Aldinger, Nancy J. Mendelsohn, Brian H.Y. Chung, Wenjuan Zhang, Daniel H. Cohn, Bridget Fernandez, Fowzan S. Alkuraya, William B. Dobyns, Cynthia J. Curry

Pediatrics

Research output: Contribution to journal › Article › peer-review

45 Scopus citations

Original language	English (US)
Pages (from-to)	427-430
Number of pages	4
Journal	Journal of medical genetics
Volume	53
Issue number	6
DOIs	https://doi.org/10.1136/jmedgenet-2015-103476
State	Published - Jun 1 2016

Bibliographical note

Funding Information:
Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Dental and Craniofacial Research (NIDCR) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH) under award numbers 1R01NS092772 to WBD, P01HD070394 to DHC, R01DE019567 to DHC and R01AR062651 to DHC, and by the SK Yee Medical Foundation and Orthopaedic Hospital Research Center at UCLA.

Publisher link

10.1136/jmedgenet-2015-103476

Find It

Find It at U of M Libraries

Cite this

Aldinger, K. A., Mendelsohn, N. J., Chung, B. H. Y., Zhang, W., Cohn, D. H., Fernandez, B., Alkuraya, F. S., Dobyns, W. B., & Curry, C. J. (2016). Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. Journal of medical genetics, 53(6), 427-430. https://doi.org/10.1136/jmedgenet-2015-103476

Aldinger, KA, Mendelsohn, NJ, Chung, BHY, Zhang, W, Cohn, DH, Fernandez, B, Alkuraya, FS, Dobyns, WB & Curry, CJ 2016, 'Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations', Journal of medical genetics, vol. 53, no. 6, pp. 427-430. https://doi.org/10.1136/jmedgenet-2015-103476

@article{809e73f1f6954de78abb7165dd4c1e39,

title = "Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations",

author = "Aldinger, {Kimberly A.} and Mendelsohn, {Nancy J.} and Chung, {Brian H.Y.} and Wenjuan Zhang and Cohn, {Daniel H.} and Bridget Fernandez and Alkuraya, {Fowzan S.} and Dobyns, {William B.} and Curry, {Cynthia J.}",

note = "Funding Information: Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Dental and Craniofacial Research (NIDCR) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH) under award numbers 1R01NS092772 to WBD, P01HD070394 to DHC, R01DE019567 to DHC and R01AR062651 to DHC, and by the SK Yee Medical Foundation and Orthopaedic Hospital Research Center at UCLA.",

year = "2016",

month = jun,

day = "1",

doi = "10.1136/jmedgenet-2015-103476",

language = "English (US)",

volume = "53",

pages = "427--430",

journal = "Journal of medical genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "6",

}

TY - JOUR

T1 - Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

AU - Aldinger, Kimberly A.

AU - Mendelsohn, Nancy J.

AU - Chung, Brian H.Y.

AU - Zhang, Wenjuan

AU - Cohn, Daniel H.

AU - Fernandez, Bridget

AU - Alkuraya, Fowzan S.

AU - Dobyns, William B.

AU - Curry, Cynthia J.

N1 - Funding Information: Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Dental and Craniofacial Research (NIDCR) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH) under award numbers 1R01NS092772 to WBD, P01HD070394 to DHC, R01DE019567 to DHC and R01AR062651 to DHC, and by the SK Yee Medical Foundation and Orthopaedic Hospital Research Center at UCLA.

PY - 2016/6/1

Y1 - 2016/6/1

UR - http://www.scopus.com/inward/record.url?scp=84974808948&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84974808948&partnerID=8YFLogxK

U2 - 10.1136/jmedgenet-2015-103476

DO - 10.1136/jmedgenet-2015-103476

M3 - Article

C2 - 26671912

AN - SCOPUS:84974808948

SN - 0022-2593

VL - 53

SP - 427

EP - 430

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 6

ER -

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

Bibliographical note

Publisher link

Find It

Other files and links

Cite this