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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Cold Spring Harb Mol Case Stud
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Cold Spring Harbor Laboratory Press 2019
Ämnen:
Rapid Communication
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk