Výsledky vyhledávání - "Carney Complex Variant"

Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation

Autor: Erica Wu, Anne Slavotinek, Karin Vargervik, Karen Minzer-Conzetti

Publikováno v: Clinical Dysmorphology. 17:1-4

We report a 20-year-old man with trismus-pseudocamptodactyly (TPS) syndrome who was found to have the same MYH8 mutation, p.R674Q, described in previous families with TPS syndrome and in one family with a Carney complex variant, trismus and pseudocam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba01bcdda3dbdc10c8c7994b5a5ef5af
https://doi.org/10.1097/mcd.0b013e3282efdad8

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Mutation of perinatal myosin heavy chain associated with a carney complex variant

Autor: D.A. McDermott, M. Bressan, M. Veugelers

Publikováno v: ACC Current Journal Review. 13:47

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d7868f8874969dc1267f51c2253ffb52
https://doi.org/10.1016/j.accreview.2004.08.094

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