Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. [electronic resource]
Producer: 20161013Description: 227-33 p. digitalISSN:- 1720-8386
- Adult
- Amenorrhea -- etiology
- Amino Acid Substitution
- Blepharophimosis -- drug therapy
- Combined Modality Therapy
- DNA Mutational Analysis
- Eyelids -- abnormalities
- Female
- Forkhead Box Protein L2
- Forkhead Transcription Factors -- genetics
- Gene Duplication
- Genetic Association Studies
- Hormone Replacement Therapy
- Humans
- Italy
- Menarche -- drug effects
- Mutation, Missense
- Ovary -- drug effects
- Pedigree
- Primary Ovarian Insufficiency -- etiology
- Skin Abnormalities -- drug therapy
- Urogenital Abnormalities -- drug therapy
- Young Adult
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Publication Type: Journal Article
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