Article
Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype.
European journal of pediatrics - 1 Sept 1994
Cacciari E, Pirazzoli P, Gualandi S, Baroncini C, Baldazzi L, Trevisani B, Capelli M, Zucchini S, Balsamo A, Cicognani A
Abstract excerpt
The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion...
Topics
- Adolescent
- Alleles
- Base Sequence
- Blotting, Southern
- Child
- Child, Preschool
- Female
- Gene Deletion
- Growth Disorders
- Growth Hormone
- Humans
- Male
- Molecular Sequence Data
- Multigene Family
- Phenotype