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1-2 of 2
Keywords: Cornelia de Lange syndrome
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Journal Articles
Rachel E. Musa, Kaitlyn L. Lester, Gabrielle Quickstad, Sara Vardabasso, Trevor V. Shumate, Ryan T. Salcido, Kai Ge, Karl B. Shpargel
Journal:
Development
Development (2024) 151 (2): dev202110.
Published: 24 January 2024
...Rachel E. Musa; Kaitlyn L. Lester; Gabrielle Quickstad; Sara Vardabasso; Trevor V. Shumate; Ryan T. Salcido; Kai Ge; Karl B. Shpargel ABSTRACT Cornelia de Lange syndrome (CdLS) is a congenital disorder featuring facial dysmorphism, postnatal growth deficits, cognitive disability and upper limb...
Includes: Supplementary data
Journal Articles
Bin Zhang, Sanjay Jain, Haengseok Song, Ming Fu, Robert O. Heuckeroth, Jonathan M. Erlich, Patrick Y. Jay, Jeffrey Milbrandt
Journal:
Development
Development (2007) 134 (17): 3191–3201.
Published: 1 September 2007
... are associated with the developmental disorder Cornelia de Lange syndrome (CdLS) in humans. To delineate the physiological roles of PDS5B in mammals, we generated mice lacking PDS5B (APRIN). Pds5B- deficient mice died shortly after birth. They exhibited multiple congenital anomalies,including heart defects...
Includes: Supplementary data