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Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
S UK, Sankar S, Younes S, D TK, Ahmad MN, Okashah SS, Kamaraj B, Al-Subaie AM, C GPD, Zayed H. S UK, et al. Molecules. 2020 Nov 26;25(23):5543. doi: 10.3390/molecules25235543. Molecules. 2020. PMID: 33255942 Free PMC article.
The four autosomal dominant disorders that are associated with FLNB variants are Larsen syndrome, atelosteogenesis type I (AOI), atelosteogenesis type III (AOIII), and boomerang dysplasia (BD). ...
The four autosomal dominant disorders that are associated with FLNB variants are Larsen syndrome, atelosteogenesis type I …
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism.
Meira JGC, Sarno MAC, Faria ÁCO, Yamamoto GL, Bertola DR, Scheibler GG, Tavares DF, Acosta AX. Meira JGC, et al. Rev Bras Ginecol Obstet. 2018 Sep;40(9):570-576. doi: 10.1055/s-0038-1670684. Epub 2018 Sep 19. Rev Bras Ginecol Obstet. 2018. PMID: 30231296 Free PMC article.
Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filaminB (FLNB) gene with classic and well-recognizable clinical findings. ...
Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filaminB (FLNB) ge …
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
Rehder H, Laccone F, Kircher SG, Schild RL, Rapp C, Bald R, Schulze B, Behunova J, Neesen J, Schoner K. Rehder H, et al. Am J Med Genet A. 2018 Jul;176(7):1559-1568. doi: 10.1002/ajmg.a.38828. Epub 2018 May 23. Am J Med Genet A. 2018. PMID: 29797497 Free PMC article.
Piepkorn type of osteochondrodysplasia has been assigned to the giant cell chondrodysplasias such as atelosteogenesis type 1 (AO1) and boomerang dysplasia (BD). Analysis of the Filamin B gene in 3p14.3, which is associated with these disorders, allowed the id …
Piepkorn type of osteochondrodysplasia has been assigned to the giant cell chondrodysplasias such as atelosteogenesis type …