A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. [electronic resource]
- Human genetics Mar 2007
- 107-12 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0340-6717
10.1007/s00439-006-0276-0 doi
Adult Animals Blepharophimosis--genetics COS Cells Chlorocebus aethiops DNA Repeat Expansion--genetics Female Forkhead Box Protein L2 Forkhead Transcription Factors--genetics Genes, Recessive Humans India Male Mutation Pedigree Peptides--genetics Primary Ovarian Insufficiency--genetics Syndrome