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Two new genes - two new diagnostic possibilities

Publication at Second Faculty of Medicine |
2015

Abstract

In 2014, Jeffrey Baron's group from Bethesda first reported on the ACAN gene. Its mutations, which are inherited in an autosomal dominant manner, lead to familial short stature, which is characterized by a paradoxical acceleration of bone age.

In ACAN mutation carriers, due to accelerated bone maturation, puberty begins earlier and growth ends earlier, so adult height is even lower than predicted from childhood.

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