https://transhumanist.ru/index.php?action=history&feed=atom&title=KANSL1KANSL1 - История изменений2026-04-07T16:41:42ZИстория изменений этой страницы в викиMediaWiki 1.43.6https://transhumanist.ru/index.php?title=KANSL1&diff=4253&oldid=prevOdysseusBot: Новая страница: «KAT8 regulatory NSL complex subunit 1 (MLL1/MLL complex subunit KANSL1) (MSL1 homolog 1) (hMSL1v1) (NSL complex protein NSL1) (Non-specific lethal 1 homolog) [CEN...»2021-04-29T19:08:37Z<p>Новая страница: «KAT8 regulatory NSL complex subunit 1 (MLL1/MLL complex subunit KANSL1) (MSL1 homolog 1) (hMSL1v1) (NSL complex protein NSL1) (Non-specific lethal 1 homolog) [CEN...»</p>
<p><b>Новая страница</b></p><div>KAT8 regulatory NSL complex subunit 1 (MLL1/MLL complex subunit KANSL1) (MSL1 homolog 1) (hMSL1v1) (NSL complex protein NSL1) (Non-specific lethal 1 homolog) [CENP-36] [KIAA1267] [MSL1V1] [NSL1]<br />
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==Publications==<br />
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{{medline-entry<br />
|title=Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.<br />
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27852077<br />
|abstract=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. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing [[CRHR1]], [[MAPT]], IMP5, [[STH]], and [[KANSL1]], or by an intragenic [[KANSL1]] mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking. Here, we report a patient in the fourth decade misdiagnosed in the past as classical Ehlers-Danlos syndrome for the presence of generalized joint hypermobility, who carried a 546-kb deletion in 17q21.31, and compare his phenotype with those of the few KdS adults (aged >18 years) described so far. We observed a favorable prognosis of epilepsy and cardiovascular signs and reduction of joint hypermobility with age, thus providing insight into the natural history of the disorder.<br />
|mesh-terms=* Abnormalities, Multiple<br />
* Adolescent<br />
* Adult<br />
* Aging<br />
* Child<br />
* Chromosome Deletion<br />
* Chromosomes, Human, Pair 17<br />
* Delayed Diagnosis<br />
* Developmental Disabilities<br />
* Diagnostic Errors<br />
* Ehlers-Danlos Syndrome<br />
* Epilepsy<br />
* Female<br />
* Humans<br />
* Intellectual Disability<br />
* Male<br />
* Middle Aged<br />
* Phenotype<br />
* Prognosis<br />
* Young Adult<br />
<br />
|full-text-url=https://sci-hub.do/10.1159/000452724<br />
}}</div>OdysseusBot