scholarly journals Phenotypic variation in type II isolated growth hormone deficiency

2006 ◽  
Vol 2 (3) ◽  
pp. 122-122
Author(s):  
Caroline Barranco
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Phenotypic Variation ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Isolated Growth Hormone Deficiency

Convergence of two types of familial short stature in a pedigree

1981 ◽  
Vol 97 (3) ◽  
pp. 315-319
Author(s):  
F. Mollica ◽  
S. Li Volti ◽  
L. Pavone ◽  
R. Vigo ◽  
S. Raiti
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Autosomal Dominant ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Isolated Growth Hormone Deficiency

Abstract. This study reports an unusual family with coexistence of isolated growth hormone deficiency transmitted as an autosomal dominant trait (Rimoin Type II) and constitutional short stature.

scholarly journals A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II

2009 ◽  
Vol 94 (12) ◽  
pp. 4728-4734 ◽  
Author(s):  
Rizwan Hamid ◽  
John A. Phillips ◽  
Cindy Holladay ◽  
Joy D. Cogan ◽  
Eric D. Austin ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Molecular Basis ◽  
Clinical Severity ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Isolated Growth Hormone Deficiency ◽  
Deficiency Type

Autosomal-Dominant Isolated Growth Hormone Deficiency (IGHD Type II) with Normal GH-1 Gene

2006 ◽  
Vol 65 (2) ◽  
pp. 76-82 ◽  
Author(s):  
Danilo Fintini ◽  
Roberto Salvatori ◽  
Souzan Salemi ◽  
Barto Otten ◽  
GraziaMaria Ubertini ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Dominant ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Isolated Growth Hormone Deficiency

A Novel GH1 Mutation in a Family with Isolated Growth Hormone Deficiency Type II

2012 ◽  
Vol 77 (3) ◽  
pp. 200-204 ◽  
Author(s):  
Zoran Gucev ◽  
Velibor Tasic ◽  
Liljana Saranac ◽  
Heike Stobbe ◽  
Jürgen Kratzsch ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Isolated Growth Hormone Deficiency ◽  
Deficiency Type

Splice Site Mutations inGH1Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II

2013 ◽  
Vol 80 (6) ◽  
pp. 390-396 ◽  
Author(s):  
M.J.E. Kempers ◽  
S.N. van der Crabben ◽  
M. de Vroede ◽  
J. Alfen-van der Velden ◽  
R.T. Netea-Maier ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Splice Site ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Isolated Growth Hormone Deficiency ◽  
Deficiency Type
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