Cargando…
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree
A 4-yr-old female with congenital knee dislocations and joint laxity was noted to have a strong maternal family history comprising multiple individuals with knee problems and clubfeet. As the knee issues were the predominant clinical features, clinical testing included sequencing of LMX1B, TBX2, and...
| Autores principales: | , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913154/ https://www.ncbi.nlm.nih.gov/pubmed/31836586 http://dx.doi.org/10.1101/mcs.a004176 |