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<Emphasis Type="Italic">FOXL2</Emphasis> mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome |
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| Authors: | Jeyabalan Nallathambi Guruswamy Neethirajan Kim Usha Jethani Jitendra Elfride De Baere Periasamy Sundaresan |
| Institution: | (1) Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, 625020, India;(2) Orbit Clinic, Aravind Eye Hospital, Madurai, 625020, India;(3) Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Madurai, 625020, India;(4) Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium |
| Abstract: | |
| Keywords: | BPES syndrome FOXL2 gene haploinsufficiency premature ovarian failure (POF) FOXL2 polyalanine expansion genetic counseling |
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