Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

Karen W. Gripp; Katherine M. Robbins; Nara L. Sobreira; P. Dane Witmer; Lynne M. Bird; Kristiina Avela; Outi Makitie; Daniela Alves; Jacob S. Hogue; Elaine H. Zackai; Kimberly F. Doheny; Deborah L. Stabley; Katia Sol-Church

doi:10.1002/ajmg.a.36863

Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

Karen W. Gripp, Katherine M. Robbins, Nara L. Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Makitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol-Church

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

Original language	English
Journal	American Journal of Medical Genetics. Part A
Volume	167A
Issue number	2
Pages (from-to)	271-281
Number of pages	11
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.36863
Publication status	Published - Feb 2015
MoE publication type	A1 Journal article-refereed

Fields of Science

NOTCH3
lateral meningocele syndrome
Lehman syndrome
Hajdu-Cheney syndrome
PEST domain
dural ectasia
HAJDU-CHENEY-SYNDROME
SYNDROME DIFFERENT DISORDERS
DNA-SEQUENCING DATA
OVERLAPPING PHENOTYPES
OSTEOSCLEROSIS
FRAMEWORK
FEATURES
CADASIL
GENES
3111 Biomedicine

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10.1002/ajmg.a.36863

Cite this

Gripp, K. W., Robbins, K. M., Sobreira, N. L., Witmer, P. D., Bird, L. M., Avela, K., Makitie, O., Alves, D., Hogue, J. S., Zackai, E. H., Doheny, K. F., Stabley, D. L., & Sol-Church, K. (2015). Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome. American Journal of Medical Genetics. Part A, 167A(2), 271-281. https://doi.org/10.1002/ajmg.a.36863

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title = "Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome",

keywords = "NOTCH3, lateral meningocele syndrome, Lehman syndrome, Hajdu-Cheney syndrome, PEST domain, dural ectasia, HAJDU-CHENEY-SYNDROME, SYNDROME DIFFERENT DISORDERS, DNA-SEQUENCING DATA, OVERLAPPING PHENOTYPES, OSTEOSCLEROSIS, FRAMEWORK, FEATURES, CADASIL, GENES, 3111 Biomedicine",

author = "Gripp, {Karen W.} and Robbins, {Katherine M.} and Sobreira, {Nara L.} and Witmer, {P. Dane} and Bird, {Lynne M.} and Kristiina Avela and Outi Makitie and Daniela Alves and Hogue, {Jacob S.} and Zackai, {Elaine H.} and Doheny, {Kimberly F.} and Stabley, {Deborah L.} and Katia Sol-Church",

year = "2015",

month = feb,

doi = "10.1002/ajmg.a.36863",

language = "English",

volume = "167A",

pages = "271--281",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "Wiley",

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AU - Gripp, Karen W.

AU - Robbins, Katherine M.

AU - Sobreira, Nara L.

AU - Witmer, P. Dane

AU - Bird, Lynne M.

AU - Avela, Kristiina

AU - Makitie, Outi

AU - Alves, Daniela

AU - Hogue, Jacob S.

AU - Zackai, Elaine H.

AU - Doheny, Kimberly F.

AU - Stabley, Deborah L.

AU - Sol-Church, Katia

PY - 2015/2

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KW - NOTCH3

KW - lateral meningocele syndrome

KW - Lehman syndrome

KW - Hajdu-Cheney syndrome

KW - PEST domain

KW - dural ectasia

KW - HAJDU-CHENEY-SYNDROME

KW - SYNDROME DIFFERENT DISORDERS

KW - DNA-SEQUENCING DATA

KW - OVERLAPPING PHENOTYPES

KW - OSTEOSCLEROSIS

KW - FRAMEWORK

KW - FEATURES

KW - CADASIL

KW - GENES

KW - 3111 Biomedicine

U2 - 10.1002/ajmg.a.36863

DO - 10.1002/ajmg.a.36863

M3 - Article

SN - 1552-4825

VL - 167A

SP - 271

EP - 281

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

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ER -