Publications:

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

Bmc Musculoskeletal Disorders

Yasin, Samina S; Makitie, Outi O; Naz, Sadaf S

Publication Date: 2021-01-06

Variant appearance in text: FLNB: 5548G>T

PubMed Link: 33407338

Variant Present in the following documents:

• 12891_2020_Article_3890.pdf

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Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

American Journal Of Medical Genetics. Part A

Brunetti-Pierri, Nicola N; Esposito, Valentina V; De Brasi, Daniele D; Mattiacci, Dario Maria DM; Krakow, Deborah D; Lee, Brendan B; Salerno, Mariacarolina M

Publication Date: 2008-05-01

Variant appearance in text: FLNB: 5548G>T; G1850X

PubMed Link: 18386804

Variant Present in the following documents:

• Main text

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Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Human Molecular Genetics

Farrington-Rock, Claire C; Kirilova, Veneta V; Dillard-Telm, Lisa L; Borowsky, Alexander D AD; Chalk, Sara S; Rock, Matthew J MJ; Cohn, Daniel H DH; Krakow, Deborah D

Publication Date: 2008-03-01

Variant appearance in text: FLNB: 5548G>T; Gly1850X

PubMed Link: 17635842

Variant Present in the following documents:

• Main text

View BVdb publication page