De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.
Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland.
Kirsi
K
Vaaralahti
1] Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland [2] Children's Hospital, Helsinki University Central Hospital (HUCH), Helsinki, Finland.
Johanna
J
Tommiska
1] Department of Pediatrics, University of Tartu, Tartu, Estonia [2] Children's Clinic, Tartu University Hospital, Tartu, Estonia.
Vallo
V
Tillmann
Tallinn Children's Hospital, Tallinn, Estonia.
Natalja
N
Liivak
Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland.
Johanna
J
Känsäkoski
1] Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland [2] Children's Hospital, Helsinki University Central Hospital (HUCH), Helsinki, Finland.
Eeva-Maria
EM
Laitinen
1] Institute of Biomedicine/Physiology, University of Helsinki, Helsinki, Finland [2] Children's Hospital, Helsinki University Central Hospital (HUCH), Helsinki, Finland.
Taneli
T
Raivio
D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D017436:Kallmann Syndrome / Q000150:complications* / Q000235:genetics*; D008297:Male; D010641:Phenotype; D055757:SOXE Transcription Factors / Q000235:genetics*; D055815:Young Adult
D018389:Codon, Nonsense; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors