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pro vyhledávání: '"Wilmarie J Bruckman-Blanco"'
Autor:
Abymael Frontanes-Heredia, Wilfredo De Jesús-Rojas, Sherry L Santiago-Castro, Michael A Ramirez-Arenalde, Wilmarie J Bruckman-Blanco
Publikováno v:
Cureus
Birk-Barel syndrome, alternatively known as KCNK9 imprinting syndrome, is caused by a missense mutation in the potassium two pore domain channel subfamily K member 9 (KCNK9) gene on chromosome 8q24.3. This syndrome demonstrates dominant inheritance a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84091ef7349f714ea388e3c6befccd37
http://europepmc.org/articles/PMC8301725
http://europepmc.org/articles/PMC8301725
