Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

BACKGROUND: Rubinstein–Taybi syndrome (RSTS) is a congenital disorder characterised by growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation. Broad thumbs and halluces are the hallmarks of the syndrome. RSTS is associated with chromosomal rearrangements and mutations...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Bartholdi, Deborah, Roelfsema, Jeroen H, Papadia, Francesco, Breuning, Martijn H, Niedrist, Dunja, Hennekam, Raoul C, Schinzel, Albert, Peters, Dorien J M
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2007
Gaiak:
Letter to JMG
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597984/
https://ncbi.nlm.nih.gov/pubmed/17220215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.046698
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