A carregar...
A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period
Genitopatellar syndrome (GPS) is a rare autosomal dominant disorder caused by de novo pathogenic variants in the KAT6B gene. It is characterized by genital abnormalities, patellar hypoplasia/agenesis, flexion contractures of the hips and knees, corpus callosum agenesis with microcephaly, and hydrone...
Na minha lista:
| Publicado no: | Case Rep Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7475762/ https://ncbi.nlm.nih.gov/pubmed/32908725 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/1731720 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|