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The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.
Karamik G, Tuysuz B, Isik E, Yilmaz A, Alanay Y, Sunamak EC, Durmusalioglu EA, Ozkinay F, Cetin GO, Ozturk N, Mihci E, Nur B. Karamik G, et al. Am J Med Genet A. 2023 Jul;191(7):1814-1825. doi: 10.1002/ajmg.a.63207. Epub 2023 Apr 13. Am J Med Genet A. 2023. PMID: 37053206 Review.
Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 including KANSL1 gene or intragenic pathogenic variants in KANSL1 gene. ...
Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.3
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
Farnè M, Bernardini L, Capalbo A, Cavarretta G, Torres B, Sanchini M, Fini S, Ferlini A, Bigoni S. Farnè M, et al. Am J Med Genet A. 2022 Feb;188(2):692-707. doi: 10.1002/ajmg.a.62536. Epub 2021 Oct 19. Am J Med Genet A. 2022. PMID: 34665525 Free PMC article. Review.
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. ...
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal regi
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
Ciaccio C, Dordoni C, Ritelli M, Colombi M. Ciaccio C, et al. Cytogenet Genome Res. 2016;150(1):40-45. doi: 10.1159/000452724. Epub 2016 Nov 17. Cytogenet Genome Res. 2016. PMID: 27852077 Review.
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. ...
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac
Early fetal presentation of Koolen-de Vries: Case report with literature review.
Sauvestre F, Marguet F, Rooryck C, Vuillaume ML, Cardinaud F, Laquerrière A, André G, Pelluard F. Sauvestre F, et al. Eur J Med Genet. 2017 Nov;60(11):605-609. doi: 10.1016/j.ejmg.2017.08.012. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28811189 Review.
Koolen-de Vries syndrome (MIM#610443) is a rare microdeletion syndrome involving the 17q21.31 region, which was first described by Koolen in 2006. ...Array-CGH performed on thymic DNA tissue revealed a 17q21.31 microdeletion, which allowed for the conf
Koolen-de Vries syndrome (MIM#610443) is a rare microdeletion syndrome involving the 17q21.31 region, which was
Atypical Cafe-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).
Han AM, Kusari A, Soeprono F, Eichenfield LF. Han AM, et al. Pediatr Dermatol. 2019 Jul;36(4):e97-e98. doi: 10.1111/pde.13849. Epub 2019 May 24. Pediatr Dermatol. 2019. PMID: 31125459 Review.
Koolen-de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. ...
Koolen-de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic diso
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, García-Miñaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D. Blackburn PR, et al. Eur J Hum Genet. 2019 Sep;27(9):1379-1388. doi: 10.1038/s41431-019-0423-4. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053785 Free PMC article. Review.
One of the subjects had dual molecular diagnoses including a co-occurring microdeletion at 17q21.31 associated with Koolen de Vries syndrome, which has a partially overlapping disease phenotype. ...
One of the subjects had dual molecular diagnoses including a co-occurring microdeletion at 17q21.31 associated with Koolen de