hrp0082p3-d1-814 | Growth | ESPE2014
, Gurbuz Fatih
, Bisgin Atil
, Ucakturk Eda Mengen
, Topaloglu Ali Kemal
Background: The familial type of isolated GH deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type 1A and 1B, the autosomal-dominant type 2, and X-linked recessive type 3. Phenotype-genotype correlations are notoriously difficult to be established.Objective and hypotheses: Herein, we described the variable clinical status of a family with a novel GH1 mutation which is...