STAG3 truncating variant as the cause of primary ovarian insufficiency

European Journal of Human Genetics

Volumn 24, Issue 1, 2016, Pages 135-138

  Le Quesne Stabej, Polona ^a   Williams, Hywel J ^a   James, Chela ^a   Tekman, Mehmet ^b   Stanescu, Horia C ^b   Kleta, Robert ^a,b   Ocaka, Louise ^a   Lescai, Francesco ^a   Storr, Helen L ^c   Bitner Glindzicz, Maria ^a   Bacchelli, Chiara ^a   Conway, Gerard S ^d   Sgene, G O ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; PROTEIN; PROTEIN STAG3; UNCLASSIFIED DRUG; NUCLEAR PROTEIN; STAG3 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BASE PAIRING; CASE REPORT; CHILD; CHROMOSOME 7; CLINICAL FEATURE; CONSANGUINITY; ELECTROPHORESIS; ESTROGEN THERAPY; EXOME; EXON; FEMALE; GENE; GENE DUPLICATION; GENE LOCUS; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; KARYOTYPE 46,XX; LEBANESE; LINKAGE ANALYSIS; MENARCHE; PATHOGENESIS; PREMATURE OVARIAN FAILURE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; SCHOOL CHILD; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STAG3 GENE; AMENORRHEA; DNA SEQUENCE; GENE EXPRESSION; GENETIC LINKAGE; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PRIMARY OVARIAN INSUFFICIENCY; SIBLING;

ADOLESCENT; AMENORRHEA; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 7; CONSANGUINITY; EXOME; FEMALE; GENE EXPRESSION; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PRIMARY OVARIAN INSUFFICIENCY; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 84951573702     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.107     Document Type: Article

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