Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
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Last updated 16 julho 2024
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Opposing Effects of CREBBP Mutations Govern the Phenotype of
![Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF](https://www.researchgate.net/profile/Hidesuke-Kaji/publication/11188844/figure/fig6/AS:349267605639178@1460283294598/Loss-of-ability-of-Pit-1-to-make-a-complex-containing-CBP-appears-to-be-associated-with_Q320.jpg)
PDF) Novel Function of the Transactivation Domain of a Pituitary
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Genes, Free Full-Text
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A case of Rubinstein-Taybi Syndrome with a CREB-binding protein
![Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF](https://0.academia-photos.com/attachment_thumbnails/86592259/mini_magick20220528-8773-1ogw71o.png?1653724845)
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with
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Molecular analysis of the CBP gene in 60 patients with Rubinstein
![Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1471-2350-7-77/MediaObjects/12881_2006_Article_185_Fig6_HTML.jpg)
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
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Genetic dissection of Chiari malformation type 1 using
![Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs00439-015-1542-9/MediaObjects/439_2015_1542_Fig3_HTML.gif)
Characterization of 14 novel deletions underlying Rubinstein–Taybi
![Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF](https://www.frontiersin.org/files/Articles/848879/fgene-13-848879-HTML-r1/image_m/fgene-13-848879-g005.jpg)
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
![Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF](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
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
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