TY  - JOUR
AU  - Tommiska, Johanna
AU  - Känsäkoski, Johanna
AU  - Skibsbye, Lasse
AU  - Vaaralahti, Kirsi
AU  - Liu, Xiaonan
AU  - Lodge, Emily J
AU  - Tang, Chuyi
AU  - Yuan, Lei
AU  - Fagerholm, Rainer
AU  - Kanters, Jørgen K
AU  - Lahermo, Päivi
AU  - Kaunisto, Mari
AU  - Keski-Filppula, Riikka
AU  - Vuoristo, Sanna
AU  - Pulli, Kristiina
AU  - Ebeling, Tapani
AU  - Valanne, Leena
AU  - Sankila, Eeva-Marja
AU  - Kivirikko, Sirpa
AU  - Lääperi, Mitja
AU  - Casoni, Filippo
AU  - Giacobini, Paolo
AU  - Phan-Hug, Franziska
AU  - Buki, Tal
AU  - Tena-Sempere, Manuel
AU  - Pitteloud, Nelly
AU  - Veijola, Riitta
AU  - Lipsanen-Nyman, Marita
AU  - Kaunisto, Kari
AU  - Mollard, Patrice
AU  - Andoniadou, Cynthia L
AU  - Hirsch, Joel A
AU  - Varjosalo, Markku
AU  - Jespersen, Thomas
AU  - Raivio, Taneli
PY  - 2017
DO  - 10.1038/s41467-017-01429-z
UR  - http://hdl.handle.net/10668/11763
T2  - Nature communications
AB  - 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...
LA  - en
PB  - Nature Publishing Group
KW  - Adrenocorticotropic hormone
KW  - Alleles
KW  - Amino acid substitution
KW  - Arrhythmias, cardiac
KW  - Adolescent
KW  - Adult
KW  - Animals
KW  - Child
KW  - Child, preschool
KW  - Female
KW  - Fibromatosis, gingival
KW  - Human growth hormone
KW  - Humans
KW  - KCNQ1 potassium channel
KW  - Male
KW  - Maternal inheritance
KW  - Mice
KW  - Middle aged
KW  - Models, molecular
KW  - Mutation, missense
KW  - Pedigree
KW  - Protein interaction maps
KW  - Recombinant proteins
KW  - Young Adult
TI  - Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
TY  - research article
VL  - 8
ER  -