Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1-Reference-Cited by-同舟云学术

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1

Published:2019-05-09 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bourque Danielle K.¹²^ORCID,Fonseca Inara Chacon³^ORCID,Staines Andrea¹,Teitelbaum Ronni¹,Axford Michelle M.⁴,Jobling Rebekah³⁴,Chiasson David⁵,Chitayat David¹³^ORCID

Affiliation:

1. Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics ProgramMount Sinai Hospital, University of Toronto Toronto Ontario Canada

2. Department of GeneticsCHEO, University of Ottawa Ottawa Ontario Canada

3. Division of Clinical and Metabolic Genetics, Department of PediatricsThe Hospital for Sick Children, University of Toronto Toronto Ontario Canada

4. Department of Paediatric Laboratory Medicine, Genome Diagnostics, Laboratory Medicine and PathobiologyThe Hospital for Sick Children, University of Toronto Toronto Ontario Canada

5. Department of Paediatric Laboratory Medicine, Laboratory Medicine and PathobiologyThe Hospital for Sick Children, University of Toronto Toronto Ontario Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61162

Reference23 articles.

1. Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted;Alsina Casanova M.;Human Mutation,2017

2. Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies;Antao B.;Fetal and Pediatric Pathology,2006

3. Alveolar capillary dysplasia;Bishop N. B.;American Journal of Respiratory and Critical Care Medicine,2011

4. NKX2.5mutations in patients with congenital heart disease;Blinder J.;Journal of the American College of Cardiology,2003

5. Alveolar capillary dysplasia with misalignment of pulmonary veins: Concordance between pathological and molecular diagnosis;Castilla‐Fernandez Y.;Journal of Perinatology,2013

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4. Fetal Hypoplastic Left Heart Syndrome;Pediatric Cardiology;2023

5. Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype;Molecular Cytogenetics;2022-11-03