14q13 distal microdeletion encompassingNKX2-1andPAX9: Patient report and refinement of the associated phenotype
Author:
Affiliation:
1. Department of Medical Genetics; Hospital Di Venere - ASL BARI; Bari Italy
2. Neonatology and NICU; Department of Biochemical Sciences and Human Oncology; University of Bari; Bari Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference24 articles.
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2. A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis;Caliebe;Eur J Med Genet,2011
3. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: Rescue by PAX8 synergism in one case;Carré;Hum Mol Genet,2009
4. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency;Courtois;J Clin Invest,2003
5. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: A single-centre study;Dale;Dev Med Child Neurol,2012
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2. Haploinsufficiency of <i>NKX2-1</i> is likely to contribute to developmental delay involving 14q13 microdeletions;Intractable & Rare Diseases Research;2024-02-29
3. 14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay;Neonatal Medicine;2020-11-30
4. Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma;Epilepsia;2020-11-17
5. 14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies;Molecular Genetics & Genomic Medicine;2020-05-16
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