Gulati, Reena

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). [electronic resource] - European journal of medical genetics Oct 2014 - 576-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1878-0849

10.1016/j.ejmg.2014.08.004 doi


Adult
Blepharophimosis--complications
Child, Preschool
Fathers
Forkhead Box Protein L2
Forkhead Transcription Factors--genetics
Humans
Hydronephrosis--complications
Male
Mutation
Phenotype
Skin Abnormalities--complications
Urogenital Abnormalities