Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency

American Journal of Medical Genetics

Volumn 131 A, Issue 2, 2004, Pages 200-203

  Riedl, Stefan ^a   Giedion, A ^b   Schweitzer, K ^a   Mullner Eidenbock A ^a   Grill, F ^c   Frisch, H ^a   Ludecke H J ^d  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c Orthopedic Hospital Speising   (Austria)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Growth hormone deficiency; Growth hormone therapy; Langer Giedion syndrome; Tricho rhino phalangeal syndrome

Indexed keywords

ARGININE; GROWTH HORMONE; LEVODOPA;

ANXA13 GENE; ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 8Q; CSMD3 GENE; EXT1 GENE; FEMALE; FUNCTION TEST; GENE; GENETIC DISORDER; GROWTH HORMONE DEFICIENCY; HORMONE SUBSTITUTION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SIDE EFFECT; TRICHORHINOPHALANGEAL SYNDROME II; TRPS1 GENE;

CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; DWARFISM; FEMALE; HUMAN GROWTH HORMONE; HUMANS; LANGER-GIEDION SYNDROME; MENTAL RETARDATION;

EID: 9644264288     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30374     Document Type: Article

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