Chargement en cours...
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...
Enregistré dans:
| Publié dans: | Cold Spring Harb Mol Case Stud |
|---|---|
| Auteurs principaux: | , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Cold Spring Harbor Laboratory Press
2019
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6913154/ https://ncbi.nlm.nih.gov/pubmed/31836586 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004176 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|