and founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

Identifying founder mutations in and in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of mutation carriers. In Latin America, only few founder mutations have been described.

Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis.

Isolated growth hormone deficiency (IGHD) is a disorder that leads to short stature. It has been classified into types IA, IB, II and III. GH gene mutations and growth hormone releasing hormone (GHRH) receptor gene mutations have been described in patients with IGHD.