A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP.
Bicknell LS, et al.
J Med Genet. 2007 Feb;44(2):89-98. doi: 10.1136/jmg.2006.043687. Epub 2006 Jun 26.
J Med Genet. 2007.
PMID: 16801345
Free PMC article.
METHODS: Probands were screened for mutations in FLNB using a combination of denaturing high-performance liquid chromatography, direct sequencing and restriction endonuclease digestion. Clinical and radiographical features of the patients were evaluated. RESULTS AND DISCUS …
METHODS: Probands were screened for mutations in FLNB using a combination of denaturing high-performance liquid chromatography, direct seque …