<scp>FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood</scp>-Reference-Cited by-同舟云学术

FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood

Published:2022-03-07 Issue:4 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Badura‐Stronka Magdalena¹²^ORCID,Śmigiel Robert³,Rutkowska Karolina⁴,Szymańska Krystyna⁵,Hirschfeld Adam Sebastian¹,Monkiewicz Michał⁶,Kosińska Joanna⁴,Wolańska Ewelina³,Rydzanicz Małgorzata⁴,Latos‐Bieleńska Anna¹²,Płoski Rafał⁴^ORCID

Affiliation:

1. Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland

2. Centers for Medical Genetics GENESIS Poznan Poland

3. Division of Pediatrics and Rare Disorders, Department of Pediatrics Wroclaw Medical University Poland

4. Department of Medical Genetics Warsaw Medical University Warsaw Poland

5. Department of Experimental and Clinical Neuropathology Mossakowski Medical Research Centre, Polish Academy of Sciences Warsaw Poland

6. Department of Radiology and Interventional Radiology The St. John Paul II HCP Medical Centre Poznan Poland

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1899

Reference14 articles.

1. Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease

2. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome

3. Radiological review of skull lesions

4. Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

5. Phenytoin increases markers of osteogenesis for the human species in vitro and in vivo;Lau K. H.;The Journal of Clinical Endocrinology and Metabolism,1995

Cited by 7 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. Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2;Frontiers in Pediatrics;2024-09-12

2. FINCA disease mouse model exhibits altered behaviour and immune response;2024-06-14

3. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals;European Journal of Human Genetics;2023-05-15

4. Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease;Frontiers in Neuroscience;2023-04-27

5. Acrodermatitis enteropathica – diagnostic challenges;2023-02-08