A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype-Reference-Cited by-同舟云学术

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A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype

Published:2024-06-04 Issue:4 Volume:33 Page:171-175
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Mulayim Muhammed Fatih¹,Demirbas Mustafa Hakan¹²,Percin Ferda E.¹³,Arhan Ebru⁴,Kayhan Gulsum¹

Affiliation:

1. Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara

2. Department of Medical Genetics, Elazig Fethi Sekin City Hospital, Elazig

3. GENTAN Genetic Disease Evaluation Center, Izmir

4. Department of Pediatric Neurology, Faculty of Medicine, Gazi University, Ankara, Turkey

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference9 articles.

1. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.;Hiraide;J Hum Genet,2021

2. Evidence for 28 genetic disorders discovered by combining healthcare and research data.;Kaplanis;Nature,2020

3. U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy.;Kittock;Am J Med Genet A,2023

4. A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.;Kuroda;Am J Med Genet A,2023

5. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.;Li;J Clin Investig,2023

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