Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
Por um escritor misterioso
Last updated 02 setembro 2024
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Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. - Abstract - Europe PMC
![Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC](https://europepmc.org/articles/PMC4268052/bin/nihms631533f4.jpg)
Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. - Abstract - Europe PMC
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Cyclopia: isolated and with agnathia-otocephaly complex. - Abstract - Europe PMC
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PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
![Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs12881-019-0747-5/MediaObjects/12881_2019_747_Fig1_HTML.png)
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
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Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
![Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fejhg.2016.14/MediaObjects/41431_2016_Article_BFejhg201614_Fig2_HTML.jpg)
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
![Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC](https://europepmc.org/articles/PMC8206166/bin/gr3.jpg)
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC
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Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. - Abstract - Europe PMC
![Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC](https://europepmc.org/articles/PMC8206166/bin/gr2.jpg)
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC
![Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC](https://onlinelibrary.wiley.com/cms/asset/baa22700-c371-4390-ae08-3373eb1887f9/ajmgb32628-fig-0006-m.jpg)
Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
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Cutis marmorata telangiectatica congenita: a literature review. - Abstract - Europe PMC
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Rubinstein–Taybi syndrome - Wikipedia
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