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Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
BACKGROUND: Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations in KANSL1. ...
BACKGROUND: Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 dele …
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
Bouman A, Bouwmeester RN, van Vlimmeren LA, Burger P, Mandel JL, de Vries BBA, de Kleuver M, Klein WM, Geelen JM, Koolen DA. Bouman A, et al. Am J Med Genet A. 2023 Sep;191(9):2346-2355. doi: 10.1002/ajmg.a.63334. Epub 2023 Jun 23. Am J Med Genet A. 2023. PMID: 37350176
The Koolen-de Vries syndrome (KdVS) is a multisystem disorder characterized by developmental delay, intellectual disability, characteristic facial features, epilepsy, cardiovascular and urogenital malformations, and various musculoskeletal disorders. . …
The Koolen-de Vries syndrome (KdVS) is a multisystem disorder characterized by developmental delay, intellectual …
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE. Myers KA, et al. Epilepsia. 2017 Jun;58(6):1085-1094. doi: 10.1111/epi.13746. Epub 2017 Apr 25. Epilepsia. 2017. PMID: 28440867
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secon …
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome ( …
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.
Prat D, Katowitz WR, Strong A, Katowitz JA. Prat D, et al. Ophthalmic Genet. 2021 Apr;42(2):186-188. doi: 10.1080/13816810.2020.1868012. Epub 2021 Jan 3. Ophthalmic Genet. 2021. PMID: 33393407
Background: Koolen-de Vries syndrome (KdVS) (OMIM #610443) or 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental and speech delay, intellectual disability, epilepsy, hypotonia, characteristic facial features, and …
Background: Koolen-de Vries syndrome (KdVS) (OMIM #610443) or 17q21.31 microdeletion syndrome, is a rare genetic …
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
Pascolini G, Gaudioso F, Fadda MT, Laino L, Ferraris A, Grammatico P. Pascolini G, et al. Am J Med Genet A. 2021 Mar;185(3):978-981. doi: 10.1002/ajmg.a.62006. Epub 2020 Dec 12. Am J Med Genet A. 2021. PMID: 33314579
Koolen-de Vries syndrome (KdVS, MIM#610443) is a rare malformation condition mainly characterized by cognitive impairment in association with craniofacial and visceral anomalies. ...
Koolen-de Vries syndrome (KdVS, MIM#610443) is a rare malformation condition mainly characterized by cognitive i …
AAC barriers and facilitators for children with Koolen de Vries syndrome and childhood apraxia of speech: parent perceptions.
Johnston SS, Blue CW, Stegenga SM. Johnston SS, et al. Augment Altern Commun. 2022 Sep;38(3):148-160. doi: 10.1080/07434618.2022.2085626. Epub 2022 Jun 21. Augment Altern Commun. 2022. PMID: 35726705
This supports the need to examine the barriers and facilitators experienced by different populations, including individuals with Koolen de Vries syndrome (KdVS). As a newly identified syndrome, information on individuals with KdVS is limited, and studi …
This supports the need to examine the barriers and facilitators experienced by different populations, including individuals with Koolen …
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 …
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.
Myers KA, McGlade A, Neubauer BA, Lal D, Berkovic SF, Scheffer IE, Hildebrand MS. Myers KA, et al. PLoS One. 2018 Jan 19;13(1):e0191546. doi: 10.1371/journal.pone.0191546. eCollection 2018. PLoS One. 2018. PMID: 29352316 Free PMC article.
BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. ...
BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic featur …
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C. Sanchez-Navarro I, et al. Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1. Sci Rep. 2018. PMID: 29588463 Free PMC article.
Notably, clinical refinement of complex phenotypes was achieved in 4 cases, including 2 de novo OTX2-related syndromes, a novel phenotypic association for the ciliary CEP41 gene, and the co-existence of biallelic USH2A variants and a Koolen-de-Vries syndro …
Notably, clinical refinement of complex phenotypes was achieved in 4 cases, including 2 de novo OTX2-related syndromes, a novel phenotypic a …