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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Detalles Bibliográficos
Autores principales: Kodra, Neslida, Diamonstein, Callie, Hauser, Natalie S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
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

Internet

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

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