Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature-Reference-Cited by-同舟云学术

Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

Published:2022-10-29 Issue:2 Volume:191 Page:554-558
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Alghaith Fahad A.¹^ORCID,Arts Heleen H.¹,Plourde Francois J.²,Boswall Andrew³,Gulati Partima⁴,McNeely P. Daniel⁵,Acott Philip D.⁶,Wong Kenny K.⁷,Dyack Sarah⁸

Affiliation:

1. Division of Clinical Genomics, Department of Pathology Dalhousie University Halifax Nova Scotia Canada

2. Division of Medical Genetics, Maritime Medical Genetics Service IWK Health Centre Nova Scotia Canada

3. Department of Ophthalmology and Visual Sciences Dalhousie University Halifax Nova Scotia Canada

4. Division of Neurology, Department of Pediatrics and Medicine Dalhousie University Halifax Nova Scotia Canada

5. Division of Neurosurgery, Department of Surgery Dalhousie University Halifax Nova Scotia Canada

6. Division of Nephrology, Department of Surgery Dalhousie University Halifax Nova Scotia Canada

7. Division of Cardiology, Department of Pediatrics Dalhousie University Halifax Nova Scotia Canada

8. Division of Medical Genetics, Department of Pediatrics and Medicine Dalhousie University Halifax Nova Scotia Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63023

Reference4 articles.

1. Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1

2. Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

3. Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies

4. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

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