Φορτώνει......
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association
Kleefstra syndrome is a genetic condition characterized by intellectual disability, childhood hypotonia, and facial dysmorphisms. Genital anomalies such as micropenis, cryptorchidism, and hypospadias have been reported in 30-40% of males diagnosed with the disease. However, endocrinological investig...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Case Rep Endocrinol |
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| Κύριοι συγγραφείς: | , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Hindawi
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6189678/ https://ncbi.nlm.nih.gov/pubmed/30370152 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/4283267 |
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