@article{f8525e52a312421183054bda5b154fc8,
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",
number = "2",
}