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...

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Detalles Bibliográficos
Autores principales: Hickey, Scott E., Koboldt, Daniel C., Mosher, Theresa Mihalic, Brennan, Patrick, Schmalz, Beth A., Crist, Erin, McBride, Kim L., Adler, Brent H., White, Peter, Wilson, Richard K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Rapid Communication
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

Internet

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

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