Información médico científica
Te dejamos aquí una recopilación de los principales artículos recogidos de PubMed
Ten en cuenta que son artículos escritos íntegramente en inglés y que deberás tener una cuenta de usuario de la plataforma PubMed para poder acceder al contenido completo.
Artículos médicos
- Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
- Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review.
- Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review.
- Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
- SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
- Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5).
- Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family
- SoxD genes are required for adult neural stem cell activation.
- A SOX5 gene variant as a possible contributor to short stature.
- Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.