Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of <scp>Crigler–Najjar</scp> syndrome type I and long‐chain <scp>3‐hydroxyacyl‐CoA</scp> dehydrogenase deficiency-Reference-Cited by-同舟云学术

Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler–Najjar syndrome type I and long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

Published:2022-02-24 Issue:6 Volume:188 Page:1848-1852
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:

Knapp Anna¹,Jagła Mateusz¹,Madetko‐Talowska Anna²³,Szewczyk Katarzyna²³,Książek Teofila²³,Końska Katarzyna³,Kwinta Przemko¹^ORCID

Affiliation:

1. Department of Pediatrics Chair of Pediatrics Jagiellonian University Medical College Krakow Poland

2. University Children Hospital in Krakow Krakow Poland

3. Department of Medical Genetics Chair of Pediatrics Jagiellonian University Medical College Krakow Poland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62696

Reference18 articles.

1. Agilent CytoGenomics.Software A Complete Solution for Cytogenetic Research Data Analysis. Technical Overviews: Agilent.2016.

2. Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

3. The clinical syndrome of bilirubin-induced neurologic dysfunction

4. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

5. Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia;Pediatrics & Neonatology;2024-09

2. Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping;Genes;2024-07-19

3. Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature;Global Medical Genetics;2024-01