Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot-Reference-Cited by-同舟云学术

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Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot

Published:2014-04-14 Issue:8 Volume:164 Page:2136-2137
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Vanzo Rena J.¹,Martin Megan M.¹,Sdano Mallory R.¹,Teta Kathie²,South Sarah T.³⁴⁵

Affiliation:

1. Lineagen-Genetic Counseling; Salt Lake City Utah

2. Pediatric & Adolescent Neurodevelopmental Associates; Atlanta Georgia

3. ARUP Laboratories-Cytogenetics; Salt Lake City Utah

4. University of Utah, Department of Pediatrics; Salt Lake City Utah

5. University of Utah, Department of Pathology; Salt Lake City Utah

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36572/fullpdf

Reference6 articles.

1. Further support for digenic inheritance in Bardet-Biedl syndrome;Fauser;J Med Genet,2003

2. Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/Digeorge Syndrome)

3. Mutaiton analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients;Slavotinek;Hum Genet,2002

4. NEK1 mutations cause short-rib polydactyly syndrome type majewski;Thiel;Am J Hum Genet,2011

5. SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of Fallot;Vanzo;Am J Med Genet Part A,2014

Cited by 3 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. Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation;OMICS: A Journal of Integrative Biology;2024-07-01

2. Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings;European Journal of Medical Genetics;2020-04

3. Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease;Anesthesia & Analgesia;2016-09

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