A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12
| Autor: | Yoshitsugu Sugio, Yumi Enomoto, Yoshinori Tsurusaki, Hiroaki Murakami, Kenji Kurosawa |
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| Rok vydání: | 2019 |
| Předmět: |
Heart Defects
Congenital Embryology Blepharophimosis MED12 Intellectual Disability Female patient X-linked Ohdo syndrome Medicine Blepharoptosis Humans Abnormalities Multiple Genetics Chromosomes Human X Mediator Complex business.industry Genetic Diseases X-Linked General Medicine Prognosis Phenotype Child Preschool Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Mutation Female business Developmental Biology |
| Zdroj: | Congenital anomaliesREFERENCES. 60(3) |
| ISSN: | 1741-4520 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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