High‐level gonosomal mosaicism for a pathogenic non‐coding <scp>CNV</scp> deletion of the lung‐specific <i>FOXF1</i> enhancer in an unaffected mother of an infant with <scp>ACDMPV</scp>-Reference-Cited by-同舟云学术

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

Published:2022-09-20 Issue:11 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Yıldız Bölükbaşı Esra¹^ORCID,Karolak Justyna A.²^ORCID,Szafranski Przemyslaw¹^ORCID,Gambin Tomasz³^ORCID,Willard Nicholas⁴^ORCID,Abman Steven H.⁵^ORCID,Galambos Csaba⁴⁵^ORCID,Kinsella John P.⁵^ORCID,Stankiewicz Paweł¹^ORCID

Affiliation:

1. Department of Molecular & Human Genetics Baylor College of Medicine Houston Texas USA

2. Chair and Department of Genetics and Pharmaceutical Microbiology Poznan University of Medical Sciences Poznan Poland

3. Institute of Computer Science Warsaw University of Technology Warsaw Poland

4. Department of Pathology and Laboratory Medicine University of Colorado Anschutz Medical Campus Aurora Colorado USA

5. Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA

Funder

NIH Clinical Center

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2062

Reference57 articles.

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

2. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

3. A genomic view of mosaicism and human disease

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