New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype

Growth Hormone and IGF Research

Volumn 13, Issue 5, 2003, Pages 264-268

  Salemi, Souzan ^a   Besson, Amélie ^a   Eblé, Andrée ^a   Gallati, Sabina ^a   Pfäffle, Roland W ^b   Mullis, Primus E ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

Children; Combined pituitary derived hormone deficiency; Growth hormone deficiency; PIT 1 protein; POU1F1 gene; Short stature

Indexed keywords

CORTICOTROPIN; CYTOSINE; FOLLITROPIN; GLUTAMINE; GROWTH HORMONE; HYPOPHYSIS HORMONE; LEVOTHYROXINE; LIOTHYRONINE; LUTEINIZING HORMONE; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR PIT 1; TYROSINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BODY HEIGHT; CHILD DEVELOPMENT; CONSANGUINITY; DISEASE COURSE; DNA DETERMINATION; EXON; FAMILY STUDY; FATHER; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE DETERMINATION; HUMAN; HYPOPITUITARISM; HYPOTHYROIDISM; MALAYSIA; MALE; MOTHER; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SIBLING; STOP CODON;

EID: 0141742645     PISSN: 10966374     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-6374(03)00015-7     Document Type: Article

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