[Genetic counseling in osteodystrophy Albright's syndrome. Part II. GNAS1 gene and encoded protein function, genetic forecast and treatment]. / Poradnictwo genetyczne w zespole osteodystrofii Albrighta, czyli rzekomej niedoczynnosci przytarczyc. Cz. II. Gen GNAS1 i funkcje kodowanego bialka, elementy prognozy genetycznej i mozliwosci leczenia.

ABSTRACT

In this article we describe localization and structure of genes from GNAS1 cluster, which mutations are responsible for characteristic group of features described mainly as Albright's syndrome. We present the capabilities of expressions of different phenotypes depending on types of molecular changes and possibilities of genetic prognosis with problems need to be solved in interdisciplinary support.