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- W4298142429 abstract "The corpus callosum is the largest white matter structure connecting the two cerebral hemispheres. Agenesis of the corpus callosum (ACC), complete or partial, is one of the most common cerebral malformations in humans with a reported incidence ranging between 1.8 per 10,000 livebirths to 230–600 per 10,000 in children and its presence is associated with neurodevelopmental disability. ACC may occur as an isolated anomaly or as a component of a complex disorder, caused by genetic changes, teratogenic exposures or vascular factors. Genetic causes are complex and include complete or partial chromosomal anomalies, autosomal dominant, autosomal recessive or X-linked monogenic disorders, which can be either de novo or inherited. The extreme genetic heterogeneity, illustrated by the large number of syndromes associated with ACC, highlight the underlying complexity of corpus callosum development. ACC is associated with a wide spectrum of clinical manifestations ranging from asymptomatic to neonatal death. The most common features are epilepsy, motor impairment and intellectual disability. The understanding of the genetic heterogeneity of ACC may be essential for the diagnosis, developing early intervention strategies, and informed family planning. This review summarizes our current understanding of the genetic heterogeneity in ACC and discusses latest discoveries." @default.
- W4298142429 created "2022-10-01" @default.
- W4298142429 creator A5004685350 @default.
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- W4298142429 creator A5032644486 @default.
- W4298142429 creator A5081234807 @default.
- W4298142429 creator A5082318441 @default.
- W4298142429 date "2022-09-30" @default.
- W4298142429 modified "2023-10-14" @default.
- W4298142429 title "Genetic heterogeneity in corpus callosum agenesis" @default.
- W4298142429 cites W1519509571 @default.
- W4298142429 cites W1528330408 @default.
- W4298142429 cites W1672818023 @default.
- W4298142429 cites W1762703197 @default.
- W4298142429 cites W1899210009 @default.
- W4298142429 cites W1965346473 @default.
- W4298142429 cites W1966496414 @default.
- W4298142429 cites W1969608210 @default.
- W4298142429 cites W1976867806 @default.
- W4298142429 cites W1978119925 @default.
- W4298142429 cites W1980050623 @default.
- W4298142429 cites W1982097990 @default.
- W4298142429 cites W2003164050 @default.
- W4298142429 cites W2008963615 @default.
- W4298142429 cites W2010728363 @default.
- W4298142429 cites W2011444105 @default.
- W4298142429 cites W2013077992 @default.
- W4298142429 cites W2018329827 @default.
- W4298142429 cites W2020634241 @default.
- W4298142429 cites W2024030581 @default.
- W4298142429 cites W2030458571 @default.
- W4298142429 cites W2046743827 @default.
- W4298142429 cites W2053379500 @default.
- W4298142429 cites W2057492396 @default.
- W4298142429 cites W2061196115 @default.
- W4298142429 cites W2069501719 @default.
- W4298142429 cites W2069503970 @default.
- W4298142429 cites W2074049761 @default.
- W4298142429 cites W2077648922 @default.
- W4298142429 cites W2079192712 @default.
- W4298142429 cites W2092640279 @default.
- W4298142429 cites W2095629763 @default.
- W4298142429 cites W2097627948 @default.
- W4298142429 cites W2102341431 @default.
- W4298142429 cites W2107029583 @default.
- W4298142429 cites W2108349773 @default.
- W4298142429 cites W2112852020 @default.
- W4298142429 cites W2116713316 @default.
- W4298142429 cites W2123497822 @default.
- W4298142429 cites W2124289307 @default.
- W4298142429 cites W2137538651 @default.
- W4298142429 cites W2137852781 @default.
- W4298142429 cites W2152063928 @default.
- W4298142429 cites W2152778991 @default.
- W4298142429 cites W2162805839 @default.
- W4298142429 cites W2165135462 @default.
- W4298142429 cites W2167073088 @default.
- W4298142429 cites W2249390418 @default.
- W4298142429 cites W2309481257 @default.
- W4298142429 cites W2490753106 @default.
- W4298142429 cites W2508250968 @default.
- W4298142429 cites W2511011922 @default.
- W4298142429 cites W2529537131 @default.
- W4298142429 cites W2591741230 @default.
- W4298142429 cites W2594350203 @default.
- W4298142429 cites W2609163080 @default.
- W4298142429 cites W2622317715 @default.
- W4298142429 cites W2677269878 @default.
- W4298142429 cites W2732815859 @default.
- W4298142429 cites W2761931324 @default.
- W4298142429 cites W2766222490 @default.
- W4298142429 cites W2783516836 @default.
- W4298142429 cites W2790086385 @default.
- W4298142429 cites W2804591510 @default.
- W4298142429 cites W2808557171 @default.
- W4298142429 cites W2809117425 @default.
- W4298142429 cites W2810252065 @default.
- W4298142429 cites W2882999734 @default.
- W4298142429 cites W2886729698 @default.
- W4298142429 cites W2886915509 @default.
- W4298142429 cites W2893980705 @default.
- W4298142429 cites W2896436420 @default.
- W4298142429 cites W2897005419 @default.
- W4298142429 cites W2899396499 @default.
- W4298142429 cites W2901468554 @default.
- W4298142429 cites W2905154573 @default.
- W4298142429 cites W2919485095 @default.
- W4298142429 cites W2925122762 @default.
- W4298142429 cites W2950656948 @default.
- W4298142429 cites W2953761258 @default.
- W4298142429 cites W2962792760 @default.
- W4298142429 cites W2969256547 @default.
- W4298142429 cites W2969878504 @default.
- W4298142429 cites W2981225607 @default.
- W4298142429 cites W2987702440 @default.
- W4298142429 cites W2987803261 @default.
- W4298142429 cites W2994214625 @default.
- W4298142429 cites W3006306340 @default.
- W4298142429 cites W3007623777 @default.