Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome-Reference-Cited by-同舟云学术

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome

Published:2015-08-04 Issue:11 Volume:167 Page:2795-2799
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Karaca Ender¹,Yuregir Ozge O.²,Bozdogan Sevcan T.³,Aslan Huseyin⁴,Pehlivan Davut¹,Jhangiani Shalini N.¹⁵,Akdemir Zeynep C.¹,Gambin Tomasz¹,Bayram Yavuz¹,Atik Mehmed M.¹,Erdin Serkan⁶⁷,Muzny Donna¹⁵,Gibbs Richard A.¹⁵,Lupski James R.¹⁵⁸⁹,

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Department of Medical Genetics; Numune Training and Research Hospital; Adana Turkey

3. Department of Medical Genetics; Mersin University; Mersin Turkey

4. Department of Medical Genetics; Medical Faculty of Eskisehir Osmangazi University; Eskisehir Turkey

5. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

6. Center for Human Genetic Research; Massachusetts General Hospital; Boston Massachusetts

7. Program in Medical and Population Genetics; Broad Institute of MIT and Harvard; Cambridge Massachusetts

8. Department of Pediatrics; Baylor College of Medicine; Houston Texas

9. Texas Children's Hospital; Houston Texas

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. ConSurf 2010: Calculating evolutionary conservation in sequence and structure of proteins and nucleic acids;Ashkenazy;Nucleic Acids Res,2010

2. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome;Bainbridge;Genome Med,2013

3. The Pfam protein families database;Bateman;Nucleic Acids Res,2002

4. Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype;Bayrakli;BMC Genet,2013

5. Klippel-Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes;Chacon-Camacho;Eur J Med Genet,2012

Cited by 46 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. PUF60 loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome;American Journal of Medical Genetics Part A;2024-01-31

2. Molecular landscape of congenital vertebral malformations: recent discoveries and future directions;Orphanet Journal of Rare Diseases;2024-01-30

3. Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6;Spine Deformity;2023-12-14

4. Regulation of Notch1 Signalling by Long Non-Coding RNAs in Cancers and Other Health Disorders;International Journal of Molecular Sciences;2023-08-08

5. Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary;Journal of the Endocrine Society;2022-08-11