Article
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
Cold Spring Harbor molecular case studies - 1 Dec 2019
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
Abstract excerpt
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 TBX4, which identified no significant variants. Research genome sequencing was performed in the proband, parents,...
Topics
- Abnormalities, Multiple
- Adult
- Base Sequence
- Child, Preschool
- Congenital Abnormalities
- Family
- Female
- Filamins
- Heterozygote
- Humans
- Knee Dislocation