Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference12 articles.
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3. Inherited surfactant deficiency due to uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily A, member 3 genes;Hamvas;J Pediatr,2009
4. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy;Kantarci;Am J Med Genet Part A,2008
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1. 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
2. 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;American Journal of Medical Genetics Part A;2022-02-24
3. Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia;International Journal of Molecular Sciences;2021-07-22
4. A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2;Journal of Human Genetics;2021-05-24
5. Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 andCYP1B1deletion;Molecular Genetics & Genomic Medicine;2019-06-28
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