scholarly journals Isolated Growth Hormone Deficiency Type II due to a novel GH1 mutation: A Case Report

2019 ◽  
Author(s):  
Ahmad Kautsar ◽  
Jan M. Wit ◽  
Aman Pulungan
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Isolated Growth Hormone Deficiency ◽  
Deficiency Type

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

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

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.

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