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pro vyhledávání: '"Cheng Yee Chang"'
Autor:
Stephen P. Robertson, Zandra A. Jenkins, Tracy Dudding, Margriet van Kogelenberg, Alison Macharg, George McGillivray, Stuart Sugito, Jacek Pilch, Raj P. Kapur, Nicola Foulds, Sophia Frentz, Mark C. Hannibal, Cheng Yee Chang, Sixto García-Miñaur, Scott Nightingale, David Markie, Richard J. Leventer, Timothy R. Morgan, Wenhua Wei
Publikováno v:
Human Mutation. 39:103-113
Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo-obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle layering.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4bb3aadd28906fd00206706b1af6d87
https://doi.org/10.1002/humu.23355
https://doi.org/10.1002/humu.23355
