A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency

Hormone Research in Paediatrics

Volumn 77, Issue 1, 2012, Pages 41-51

  Pozza, Susanne Bechtold Dalla ^a   Hiedl, Stefan ^a   Roeb, Julia ^a   Lohse, Peter ^a   Malik, Raleigh E ^c   Park, Soyoung ^c   Durán Prado, Mario ^b   Rhodes, Simon J ^c,d  

^a UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF CASTILLA LA MANCHA   (Spain)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d INDIANA UNIVERSITY   (United States)

Author keywords

Development; Growth; LIM; Pediatric patients; Transcription

Indexed keywords

CORTICOTROPIN; FOLLITROPIN; GLYCOPHORIN A; GROWTH HORMONE; HYPOPHYSIS HORMONE; LUTEINIZING HORMONE; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR LHX3;

AMINO ACID SUBSTITUTION; CASE REPORT; COMBINED PITUITARY HORMONE DEFICIENCY; COMPUTER MODEL; CONFERENCE PAPER; CORTICOTROPIN DEFICIENCY; DNA BINDING; FEMALE; FOLLICLE STIMULATING HORMONE DEFICIENCY; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENE TARGETING; GROWTH HORMONE DEFICIENCY; HEARING IMPAIRMENT; HORMONE DEFICIENCY; HUMAN; LUTEINIZING HORMONE DEFICIENCY; NEWBORN; PRIORITY JOURNAL; PROLACTIN DEFICIENCY; RESPIRATORY DISTRESS; SIBLING RELATION; THYROTROPIN DEFICIENCY;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HEARING LOSS; HUMANS; HYPOPITUITARISM; INFANT, NEWBORN; LIM-HOMEODOMAIN PROTEINS; MOLECULAR SEQUENCE DATA; PITUITARY GLAND; PITUITARY HORMONES; PREGNANCY; RESPIRATORY DISTRESS SYNDROME, NEWBORN; TRANSCRIPTION FACTORS;

EID: 84862783757     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000335929     Document Type: Conference Paper

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