A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation

Hormone Research in Paediatrics

Volumn 81, Issue 2, 2014, Pages 133-138

  Takagi, Masaki ^a,b   Narumi, Satoshi ^a   Asakura, Yumi ^c   Muroya, Koji ^c   Hasegawa, Yukihiro ^b   Adachi, Masanori ^c   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

HMG domain; Hypogonadotropic hypogonadism; SOX2; Targeted next generation sequencing

Indexed keywords

GENOMIC DNA; GONADOTROPIN; TESTOSTERONE; TRANSCRIPTION FACTOR SOX2; VALPROIC ACID; SOX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ADULT; AMINO TERMINAL SEQUENCE; ANOPHTHALMIA; ARTICLE; CASE REPORT; CELLULAR DISTRIBUTION; CRYPTORCHISM; CRYSTAL STRUCTURE; DNA BINDING; EYE MALFORMATION; GEL MOBILITY SHIFT ASSAY; GENE SEQUENCE; GENE STRUCTURE; GONADOTROPIN BLOOD LEVEL; HORMONE DETERMINATION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; JAPANESE; MALE; MICROPENIS; MICROPHTHALMIA; MISSENSE MUTATION; NYSTAGMUS; PRIORITY JOURNAL; RETINA DETACHMENT; RETINA DETACHMENT SURGERY; TESTOSTERONE BLOOD LEVEL; TONIC CLONIC SEIZURE; TRANSACTIVATION; YOUNG ADULT; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EMBRYO; GENE MUTATION; HUMAN CELL; HYPOGONADISM; NEXT GENERATION SEQUENCING; GENETICS; HETEROZYGOTE; PHENOTYPE;

HETEROZYGOTE; HUMANS; HYPOGONADISM; MALE; MUTATION, MISSENSE; PHENOTYPE; RETINAL DETACHMENT; SOXB1 TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84897417827     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000355279     Document Type: Article

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