Characteristics of Sotos syndrome Boer, L. de

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In accordance with this, other reports of patients with gene alterations leading to an opposite growth phenotype have emerged recently, for example a missense mutation of the

A recent study did not detect any sequence abnormalities or epigenetic changes of the NSD1 promoter region in a group of 18 classical Sotos syndrome patients without any

We also studied the SoS proximal and distal LCRs (PLCR and DLCR, respectively) in detail, by computational analysis using the published May 2004 human genome sequence,

Secondly, BRWD3 is another gene possibly related to our patient’s phenotype, because loss of function mutations were identified in 4 male patients with X-linked mental retardation,

Third, NSD1 was shown to influence many genes involved in the MAPK pathway (Figure 2 A and B) and the net effect of these changes might be more important for the MAPK/ERK

In 2002 werd aangevangen met het niet academische gedeelte van de opleiding kindergeneeskunde voor anderhalf jaar in het Jeroen Bosch ziekenhuis te Den Bosch

Geconcludeerd kan worden dat de patienten uit deze studie met een klinische verdenking op Sotos syndroom met een NSD1 genafwijking onderscheiden kunnen worden