Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes-Reference-Cited by-同舟云学术

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes

Published:2018-10-31 Issue:12 Volume:176 Page:2877-2881
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Abu-El-Haija Aya¹^ORCID,Fineman Jeff²,Connolly Andrew J.³,Murali Priyanka⁴,Judge Luke M.⁵,Slavotinek Anne M.¹

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics; University of California San Francisco; San Francisco California

2. Division of Critical Care Medicine, Department of Pediatrics; University of California San Francisco; San Francisco California

3. Department of Pathology; University of California San Francisco; San Francisco California

4. Department of Medical Genetics; Kaiser Permanente; San Jose California

5. Division of Neonatology, Department of Pediatrics; University of California San Francisco; San Francisco California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40641/fullpdf

Reference19 articles.

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

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

3. Diffuse lung disease in young children: Application of a novel classification scheme;Deutsch;American Journal of Respiratory and Critical Care Medicine,2007

4. Omphalocele and alveolar capillary dysplasia: A new association;Gerrits;Pediatric Critical Care Medicine,2010

5. Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia;Goel;Clinical Case Reports,2017

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1. Lung biopsies in infants and children in critical care situation;Pediatric Pulmonology;2024-01-02

2. Megacystis in the first trimester as an unreported sonographic finding of alveolar capillary dysplasia with misalignment of pulmonary veins confirmed by whole-exome sequencing;Journal of Medical Ultrasound;2023

3. High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV;Molecular Genetics & Genomic Medicine;2022-09-20

4. Ultrasound findings in neonates with alveolar capillary dysplasia with misalignment of the pulmonary veins: report of two cases;Journal of International Medical Research;2022-09

5. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes;Human Genetics;2021-12-01