Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Journal of Clinical Investigation

Volumn 117, Issue 2, 2007, Pages 457-463

  Pitteloud, Nelly ^a   Quinton, Richard ^b   Pearce, Simon ^b,c   Raivio, Taneli ^a   Acierno, James ^a   Dwyer, Andrew ^a   Plummer, Lacey ^a   Hughes, Virginia ^a   Seminara, Stephanie ^a   Cheng, Yu Zhu ^b,c   Li, Wei Ping ^b,c   Maccoll, Gavin ^d   Eliseenkova, Anna V ^e   Olsen, Shaun K ^e   Ibrahimi, Omar A ^e   Hayes, Frances J ^a   Boepple, Paul ^a   Hall, Janet E ^a   Bouloux, Pierre ^d   Mohammadi, Moosa ^e   Crowley Jr , William ^a   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d ROYAL FREE HOSPITAL   (United Kingdom)

^e NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 1; GONADORELIN RECEPTOR;

ADULT; ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IDIOPATHIC DISEASE; KALLMANN SYNDROME; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CONSERVED SEQUENCE; DNA; FEMALE; FIBROBLAST GROWTH FACTOR 8; GENOTYPE; GONADOTROPIN-RELEASING HORMONE; HETEROZYGOTE; HUMANS; HYPOGONADISM; KALLMANN SYNDROME; MALE; MODELS, GENETIC; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTORS, LHRH; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION FACTORS;

EID: 33846841151     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI29884     Document Type: Article

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