Koolen‐de Vriesspeech delayKoolenヾe Vries syndrome is a recurrent microdeletion syndrome caused due to deletion of around 400–600 kb region at 17q21.31. The deleted region contains various genes including KANSL1 and individuals with KANSL1 sequence variations and similar phenotypic manifestations ...
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The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure Genes & DiseasesFederica Francesca L'ErarioGiuseppe MarangiAnna Gloria RenziMarina CarapellePaolo Niccolò DoronzioDomizia PasquettiSabrina ...
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Similarly, in other neurodevelopmental disorders such as Koolen-De Vries syndrome, dysfunctional autophagy was found to cause synaptic deficits in human IPSC cultures [79, 98]. Our findings were further supported by gene set enrichment analysis of cellular stress responses [34] and mitochondrial ...
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. Eur J Hum Genet. 2018;26:75–84. Article CAS Google Scholar Dykens EM. Measuring behavioral phenotypes: provocations from the “new genetics”. Am J Ment Retard. 1995;99:522–32. CAS PubMed ...
17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndromedoi:10.1016/j.braindev.2016.02.002DELETION...
17q21.31 microdeletion syndrome, also known as Koolen-De Vries syndrome, commonly involves a 500- to 650-kb heterozygous deletion and has a possible incidence of 1 in 16,000. The most frequent clinical features include distinctive facial features, significant speech delays with mild global ...
Anesthesia management for a child with the Koolen-de Vries syndrome: a case report Article Open access 13 April 2024 Airway management of a patient with coffin-lowry syndrome: a case report Article Open access 14 August 2024 References Driessen J (2018) StüveWiedemann syndrome. Anä...
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome Article18 February 2021 Epigenomic and phenotypic characterization of DEGCAGS syndrome Article19 October 2024 Introduction Deletions of the distal 2q37 region involve the last cytogenetic band on the long arm of chromosome ...