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A case study of atypical Larsen syndrome with absent hallmark joint dislocations
BACKGROUND: A family with skeletal and craniofacial anomalies is presented. Whole‐exome sequencing (WES) analysis indicated a diagnosis of Larsen syndrome, although their clinical presentation does not include the hallmark joint dislocations typically observed in Larsen syndrome. METHODS: Patient co...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503063/ https://www.ncbi.nlm.nih.gov/pubmed/30916490 http://dx.doi.org/10.1002/mgg3.648 |