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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...
Zapisane w:
| Wydane w: | Cold Spring Harb Mol Case Stud |
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| Główni autorzy: | , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Cold Spring Harbor Laboratory Press
2019
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| Hasła przedmiotowe: | |
| Dostęp online: | 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 |
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