Genitopatellar syndrome: the first reported case in Japan
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/s41439-018-0010-1.pdf
Reference10 articles.
1. Campeau, P. M. et al. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum. Mutat. 33, 1520–1525 (2012).
2. Cormier-Daire, V. et al. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal abnormalities, facial dysmorphism, and mental retardation. J. Med. Genet. 37, 520–524 (2000).
3. Radvanszky, J. et al. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. Clin. Genet. 91, 339–343 (2017).
4. Clayton-Smith, J. et al. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am. J. Hum. Genet. 89, 675–681 (2011).
5. Gannon, T. et al. Further delineation of the KAT6B molecular and phenotypic spectrum. Eur. J. Hum. Genet. 23, 1165–1170 (2015).
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2. Case Report: Identification of Polygenic Mutations by Exome Sequencing;Frontiers in Pediatrics;2021-10-21
3. A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period;Case Reports in Genetics;2020-08-29
4. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants;Genetics in Medicine;2020-08
5. Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea;Yonsei Medical Journal;2019
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