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Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease
Costello syndrome is a rare, autosomal dominant syndrome caused by activating missense mutations in the Harvey rat sarcoma viral oncogene homolog (HRAS), most often p.G12S. Several rare mutations have consistently been associated with a more severe phenotype which is often lethal in infancy. Cause o...
שמור ב:
| הוצא לאור ב: | Pediatr Dev Pathol |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2014
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4294968/ https://ncbi.nlm.nih.gov/pubmed/25133308 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2350/14-05-1488-OA.1 |
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