Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three un...

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Detalles Bibliográficos
Autores principales: Tommiska, Johanna, Känsäkoski, Johanna, Skibsbye, Lasse, Vaaralahti, Kirsi, Liu, Xiaonan, Lodge, Emily J., Tang, Chuyi, Yuan, Lei, Fagerholm, Rainer, Kanters, Jørgen K., Lahermo, Päivi, Kaunisto, Mari, Keski-Filppula, Riikka, Vuoristo, Sanna, Pulli, Kristiina, Ebeling, Tapani, Valanne, Leena, Sankila, Eeva-Marja, Kivirikko, Sirpa, Lääperi, Mitja, Casoni, Filippo, Giacobini, Paolo, Phan-Hug, Franziska, Buki, Tal, Tena-Sempere, Manuel, Pitteloud, Nelly, Veijola, Riitta, Lipsanen-Nyman, Marita, Kaunisto, Kari, Mollard, Patrice, Andoniadou, Cynthia L., Hirsch, Joel A., Varjosalo, Markku, Jespersen, Thomas, Raivio, Taneli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668380/
https://www.ncbi.nlm.nih.gov/pubmed/29097701
http://dx.doi.org/10.1038/s41467-017-01429-z

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