Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

BACKGROUND: Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes a...

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Detalles Bibliográficos
Autores principales: Marzuillo, Pierluigi, Grandone, Anna, Coppola, Ruggero, Cozzolino, Domenico, Festa, Adalgisa, Messa, Federica, Luongo, Caterina, del Giudice, Emanuele Miraglia, Perrone, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598247/
https://www.ncbi.nlm.nih.gov/pubmed/23432975
http://dx.doi.org/10.1186/1471-2350-14-28

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598247/
https://www.ncbi.nlm.nih.gov/pubmed/23432975
http://dx.doi.org/10.1186/1471-2350-14-28

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