Is SHORT syndrome another phenotypic variation of PITX2?

Abstract excerpt

Even though responsible genetic loci and mode of inheritance for the Rieger syndrome have been well established, the mode of inheritance and the genetic basis for SHORT syndrome are still uncertain. The purpose of this paper is to document a familial translocation of t(1;4)(q31.2;q25), in a mother and her son manifesting Rieger syndrome with polycystic ovaries and SHORT syndrome, respectively. It is suggested...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosomes, Human, Pair 1
• Share to Chromosomes, Human, Pair 4