Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia-Reference-Cited by-同舟云学术

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Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

Published:2014-09 Issue:9 Volume:57 Page:487-493
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Brady P.D.,Moerman Philippe,De Catte Luc,Deprest J.,Devriendt K.,Vermeesch J.R.

Funder

Agency for Innovation by Science and Technology (IWT)

Research Foundation Flanders (FWO)

University of Leuven (KU Leuven) SymBioSys

Fonds voor Wetenschappelijk Onderzoek Vlaanderen

Instituut voor Wetenschap en Technologie

European Commission

Belgian Science Policy Office Interuniversity Attraction Poles (BELSPO-IAP)

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference38 articles.

1. Dindel: accurate indel calls from short-read data;Albers;Genome Res,2011

2. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency;Almeida;Nat Med,2006

3. Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia;Brady;Prenat Diagn,2013

4. Understanding human glycosylation disorders: biochemistry leads the charge;Freeze;J Biol Chem,2013

5. Genetic factors in congenital diaphragmatic hernia;Holder;Am J Hum Genet,2007

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1. Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series;Life;2024-05-14

2. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

3. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study;Genetics in Medicine;2023-01

4. Cellular, molecular, and metabolic aspects of developing lungs in congenital diaphragmatic hernia;Frontiers in Pediatrics;2022-11-15

5. PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation;Medicina;2022-10-26

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