Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Por um escritor misterioso
Last updated 05 julho 2024
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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/c6f51067-cd22-4999-840d-062cc0dd72f1/ajmga61888-fig-0005-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/4ddcdf3d-5ef5-4b1f-825e-ea199573e034/ajmga62085-fig-0001-m.jpg)
Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome - Wild - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://www.frontiersin.org/files/Articles/1059658/fped-11-1059658-HTML/image_m/fped-11-1059658-g001.jpg)
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1471-2350-7-77/MediaObjects/12881_2006_Article_185_Fig4_HTML.jpg)
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://medlineplus.gov/images/PX0003F3_PRESENTATION.jpeg)
Rubinstein-Taybi syndrome: MedlinePlus Genetics
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/2e25c837-deeb-40df-8f31-7a4bd9b0fb5d/ajmga61888-fig-0001-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://www.frontiersin.org/files/Articles/1059658/fped-11-1059658-HTML/image_m/fped-11-1059658-g002.jpg)
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://www.researchgate.net/publication/352725992/figure/fig3/AS:1038431769595907@1624592835765/Structure-of-CBP-and-p300-The-CBP-protein-is-composed-of-2442-amino-acids-AA-and-has-a_Q320.jpg)
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://0.academia-photos.com/attachment_thumbnails/69950810/mini_magick20210919-24780-1vv0al.png?1632112269)
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
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