Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: Successful treatment with growth hormone despite late admission and severe growth retardation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

Volumn 2, Issue 4, 2010, Pages 164-167

  Şiklar, Zeynep ^a   Berberoǧlu, Merih ^a   Legendre, Maria ^b   Amselem, Serge ^b   Evliyaoǧlu, Olcay ^a   Hacihamdioǧlu, Bülent ^a   Erdeve, Şenay Savaş ^a   Öçal, Gönül ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Final height; GH deficiency; GHRHR mutation; Transition

Indexed keywords

GROWTH HORMONE RECEPTOR; GROWTH HORMONE RELEASING HORMONE RECEPTO; RECOMBINANT GROWTH HORMONE; UNCLASSIFIED DRUG;

ADOLESCENT; ANTERIOR PITUITARY HYPOPLASIA; ARTICLE; BONE AGE; CASE REPORT; CLINICAL EXAMINATION; DISEASE SEVERITY; EXON; FEMALE; GENETIC ANALYSIS; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; HYPOPLASIA; LOSS OF FUNCTION MUTATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; SHORT STATURE; TREATMENT OUTCOME;

ADOLESCENT; ADULT; BODY HEIGHT; FEMALE; FOLLOW-UP STUDIES; HUMAN GROWTH HORMONE; HUMANS; RECEPTORS, NEUROPEPTIDE; RECEPTORS, PITUITARY HORMONE-REGULATING HORMONE; RECOMBINANT PROTEINS; SIBLINGS;

EID: 78650301694     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/jcrpe.v2i4.164     Document Type: Article

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