Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 5, 2015, Pages E808-E814

  Bayram, Yavuz ^a   Gulsuner, Suleyman ^b   Guran, Tulay ^c   Abaci, Ayhan ^d   Yesil, Gozde ^e   Gulsuner, Hilal Unal ^b   Atay, Zeynep ^c   Pierce, Sarah B ^b   Gambin, Tomasz ^a   Lee, Ming ^b   Turan, Serap ^c   Bober, Ece ^d   Atik, Mehmed M ^a   Walsh, Tom ^b   Karaca, Ender ^a   Pehlivan, Davut ^a   Jhangiani, Shalini N ^a   Muzny, Donna ^a   Bereket, Abdullah ^c   Buyukgebiz, Atilla ^d   Boerwinkle, Eric ^a,f   Gibbs, Richard A ^a   King, Mary Claire ^b   Lupski, James R ^a,g   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^d DOKUZ EYLUL UNIVERSITY   (Turkey)

^e BEZMIALEM VAKIF UNIVERSITY   (Turkey)

^f UNIVERSITY OF TEXAS   (United States)

^g TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; ESTROGEN; FOLLITROPIN; GONADOTROPIN; LUTEINIZING HORMONE; PROGESTERONE; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; SOHLH1 PROTEIN, HUMAN;

ADOLESCENT; AMENORRHEA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE AGE; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; EXOME; FEMALE; GENE; GENE FUNCTION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GONADOTROPIN BLOOD LEVEL; HETEROZYGOSITY; HORMONE BLOOD LEVEL; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; KARYOTYPE; LOSS OF FUNCTION MUTATION; NONSYNDROMIC HYPERGONADOTROPIC HYPOGONADISM; OVARY FOLLICLE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SEXUAL DEVELOPMENT; SOHLH1 GENE; TRANSCRIPTION REGULATION; GENETICS; HOMOZYGOTE; HYPOGONADISM; MUTATION;

ADOLESCENT; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD; EXOME; FEMALE; HOMOZYGOTE; HUMANS; HYPOGONADISM; MUTATION;

EID: 84929359417     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-1150     Document Type: Article

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