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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...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6503063/ https://ncbi.nlm.nih.gov/pubmed/30916490 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.648 |
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