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...

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Hlavní autoři: Bartholdi, Deborah, Roelfsema, Jeroen H, Papadia, Francesco, Breuning, Martijn H, Niedrist, Dunja, Hennekam, Raoul C, Schinzel, Albert, Peters, Dorien J M
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
Letter to JMG
On-line přístup: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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