De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss

Kirsi Vaaralahti; Johanna Tommiska; Vallo Tillmann; Natalia Liivak; Johanna Kansakoski; Eeva-Maria Laitinen; Taneli Raivio

doi:10.1038/pr.2014.60

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss

Kirsi Vaaralahti, Johanna Tommiska, Vallo Tillmann, Natalia Liivak, Johanna Kansakoski, Eeva-Maria Laitinen, Taneli Raivio

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Pediatric Research
Volume	76
Issue number	1
Pages (from-to)	115-116
Number of pages	2
ISSN	0031-3998
DOIs	https://doi.org/10.1038/pr.2014.60
Publication status	Published - Jul 2014
MoE publication type	A1 Journal article-refereed

Fields of Science

WAARDENBURG-HIRSCHSPRUNG-DISEASE
SOX10 MUTATIONS
PHENOTYPES
MECHANISM
CHD7
3111 Biomedicine
3123 Gynaecology and paediatrics

Access to Document

10.1038/pr.2014.60

Cite this

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title = "De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss",

keywords = "WAARDENBURG-HIRSCHSPRUNG-DISEASE, SOX10 MUTATIONS, PHENOTYPES, MECHANISM, CHD7, 3111 Biomedicine, 3123 Gynaecology and paediatrics",

author = "Kirsi Vaaralahti and Johanna Tommiska and Vallo Tillmann and Natalia Liivak and Johanna Kansakoski and Eeva-Maria Laitinen and Taneli Raivio",

year = "2014",

month = jul,

doi = "10.1038/pr.2014.60",

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T1 - De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss

AU - Vaaralahti, Kirsi

AU - Tommiska, Johanna

AU - Tillmann, Vallo

AU - Liivak, Natalia

AU - Kansakoski, Johanna

AU - Laitinen, Eeva-Maria

AU - Raivio, Taneli

PY - 2014/7

Y1 - 2014/7

KW - WAARDENBURG-HIRSCHSPRUNG-DISEASE

KW - SOX10 MUTATIONS

KW - PHENOTYPES

KW - MECHANISM

KW - CHD7

KW - 3111 Biomedicine

KW - 3123 Gynaecology and paediatrics

U2 - 10.1038/pr.2014.60

DO - 10.1038/pr.2014.60

M3 - Article

VL - 76

SP - 115

EP - 116

JO - Pediatric Research

JF - Pediatric Research

SN - 0031-3998

IS - 1

ER -