Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

Clinical Endocrinology

Volumn 82, Issue 3, 2015, Pages 429-438

  Demirbilek, Huseyin ^a   Ozbek, M Nuri ^a   Demir, Korcan ^b   Kotan, L Damla ^c   Cesur, Yasar ^d   Dogan, Murat ^d   Temiz, Fatih ^c   Mengen, Eda ^c   Gurbuz, Fatih ^c   Yuksel, Bilgin ^c   Topaloglu, A Kemal ^c  

^a Diyarbakir Devlet Hastanesi   (Turkey)

^b Children's Hospital   (Turkey)

^c CUKUROVA UNIVERSITY   (Turkey)

^d YUZUNCU YIL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; ESTROGEN; G PROTEIN COUPLED RECEPTOR 54; ORAL CONTRACEPTIVE AGENT; TESTOSTERONE; TYROSINE; G PROTEIN COUPLED RECEPTOR; KISS1R PROTEIN, HUMAN; STOP CODON;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANDROGEN THERAPY; ARTICLE; BONE AGE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CRYPTORCHISM; ESTROGEN THERAPY; EXON; FAMILY; FEMALE; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOSPADIAS; MALE; MOLECULAR GENETICS; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NORMOSMIC IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; PRIORITY JOURNAL; PUBERTY; RISK FACTOR; SCHOOL CHILD; SEQUENCE ANALYSIS; YOUNG ADULT; GENETICS; HYPOGONADISM; STOP CODON;

ADOLESCENT; ADULT; CODON, NONSENSE; HUMANS; HYPOGONADISM; MALE; RECEPTORS, G-PROTEIN-COUPLED; YOUNG ADULT;

EID: 84923007090     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12618     Document Type: Article

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