Exploring the role of LZTR1 in an autosomal recessive form of Noonan Syndrome by genome-edited induced pluripotent stem cells

Medientyp: E-Book; Hochschulschrift

Titel: Exploring the role of LZTR1 in an autosomal recessive form of Noonan Syndrome by genome-edited induced pluripotent stem cells

Beteiligte: Hindmarsh, Robin [VerfasserIn]; Wollnik, Bernd [AkademischeR BetreuerIn]; Zimmermann, Wolfram-Hubertus [AkademischeR BetreuerIn]; Dressel, Ralf [AkademischeR BetreuerIn]; Streckfuß-Bömeke, Katrin [AkademischeR BetreuerIn]; Cyganek, Lukas [AkademischeR BetreuerIn]; Zelarayán-Behrend, Laura [AkademischeR BetreuerIn]

Erschienen: Göttingen, 2021

Umfang: 1 Online-Ressource; Illustrationen, Diagramme

Sprache: Englisch

Identifikator:

Schlagwörter: Hochschulschrift

Entstehung:

Hochschulschrift: Dissertation, Georg-August-Universität Göttingen, 2021

Anmerkungen:

Beschreibung: Noonan syndrome is a multisystemic developmental disorder and is characterized by variable symptoms such as facial dysmorphisms, short stature, webbing of the neck and mild intellectual disability. The most severe clinical feature of this disease is an early onset and often life-threatening hypertrophic cardiomyopathy. Noonan syndrome belongs to the class of RASopathies, which share increased activity of the RAS-MAPK pathway as a common feature. In a previous study, we presented a family with two children that were diagnosed with a rare recessive form of Noonan syndrome at 6 months and 3 ye...

Zugangsstatus: Freier Zugang

Nur in Feld suchen:

Zuletzt gesuchte Begriffe: