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NoonanSyndrome news

Flow of spinal fluid disrupted in inherited developmental disorder

Medical Xpress - Mar 22, 2018
In a mouse model of Noonan syndrome's effects on the brain, Cheng-Kui Qu, MD, Ph.D. and colleagues observed defects in the cilia on ependymal cells, which are essential for the flow of cerebrospinal fluid. The findings will aid in differential ...

Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a ...

Science - Mar 20, 2018
The phosphatase SHP2, which is encoded by Ptpn11, is autoinhibited under basal conditions and adopts an open conformation and becomes catalytically active when it binds to signaling partners. Although Noonan syndrome (NS) and Noonan syndrome with ...

'You can't put a price on a heart': Naples family rallies for baby daughter

Wink News - Apr 3, 2018
The day Annie and Victor Torres welcomed their baby daughter Annie into the world was supposed to be one of the happiest of their lives. “When she was born we were so excited,” Annie said. Lucia was born on Dec. 8, with Noonan Syndrome —a condition ...

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About Noonan Syndrome

This video is about Noonan Syndrom.

Noonan Syndrome

A video made for bio class on a genetic disorders project.

Noonan syndrome - Usmle step 1

Noonan syndrome - Usmle step 1 Noonan syndrome is a clinically and genetically heterogeneous group of heritable conditions with significant physical and functional manifestations. In females,...

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Beautiful Faces of Noonan Syndrome

Music by Alexia Grace.