A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency

Hormone Research

Volumn 69, Issue 1, 2007, Pages 60-64

  Snabboon, Thiti ^a   Plengpanich, Wanee ^a   Buranasupkajorn, Patinat ^a   Khwanjaipanich, Ratchada ^b   Vasinanukorn, Padiporn ^a   Suwanwalaikorn, Sompongse ^a   Khovidhunkit, Weerapan ^a   Shotelersuk, Vorasuk ^a  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b CHONBURI HOSPITAL   (Thailand)

Author keywords

Combined pituitary hormone deficiency; Growth hormone deficiency; Pituitary development; POU1F1; Secondary hypothyroidism

Indexed keywords

HYPOPHYSIS HORMONE;

ADULT; ARTICLE; CASE REPORT; COGNITIVE DEFECT; DNA SEQUENCE; GENE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE DEFICIENCY; HUMAN; MALE; MISSENSE MUTATION; PITUITARY HORMONE DEFICIENCY; POU1F1 GENE; PRIORITY JOURNAL; SHORT STATURE; THAILAND;

ADOLESCENT; FAMILY HEALTH; FEMALE; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; HYPOPITUITARISM; HYPOTHYROIDISM; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PITUITARY HORMONES; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TRANSCRIPTION FACTOR PIT-1;

EID: 37249043632     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000111797     Document Type: Article

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