Characterization of Brain Malformations in the Baraitser-Winter Syndrome and Review of the Literature
Author:
Publisher
Georg Thieme Verlag KG
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2003-44666.pdf
Cited by 29 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
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2. A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia;Clinical Dysmorphology;2024-01-05
3. Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephalic cortical malformation;2022-12-07
4. Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature;European Journal of Medical Genetics;2021-11
5. Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome;European Journal of Medical Genetics;2020-05
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