Familial Glucocorticoid Deficiency in Five Arab Kindreds with Homozygous Point Mutations of the ACTH Receptor (MC2R): Genotype and Phenotype Correlations

By  

Hormone Research in Paediatrics, Vol. 76, Iss. 3, 2011-07 ,pp. : 165-171

Karger

Access to resources Recommend Favorite

Identification of a Novel Heterozygous IGF1 Splicing Mutation in a Large Kindred with Familial Short Stature

By  

Hormone Research in Paediatrics, Vol. 78, Iss. 1, 2012-07 ,pp. : 59-66

Karger

Access to resources Recommend Favorite

Steroid 11-Beta-Hydroxylase Deficiency Caused by Compound Heterozygosity for a Novel Mutation, p.G314R, in One CYP11B1 Allele, and a Chimeric CYP11B2/CYP11B1 in the Other Allele

By  

Hormone Research in Paediatrics, Vol. 63, Iss. 6, 2005-08 ,pp. : 284-293

Karger

Access to resources Recommend Favorite

Pseudohypoaldosteronism Type 1 due to a Novel Mutation in the Mineralocorticoid Receptor Gene

By  

Hormone Research in Paediatrics, Vol. 73, Iss. 6, 2010-04 ,pp. : 482-486

Karger

Access to resources Recommend Favorite

Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain

By  

Hormone Research in Paediatrics, Vol. 74, Iss. 6, 2010-07 ,pp. : 406-411

Karger

Access to resources Recommend Favorite