Product References
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
Human mutation
Colman M,Vroman R,Dhooge T,Malfait Z,Symoens S,Burnyté B,Nampoothiri S,Kariminejad A,Malfait F,Syx D
Thu Dec 01 00:00:00 EST 2022
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
Scientific reports
Ishikawa Y,Mizuno N,Holden P,Lim PJ,Gould DB,Rohrbach M,Giunta C,Bächinger HP
Thu Jan 16 00:00:00 EST 2020
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
Scientific reports
Ishikawa Y,Mizuno N,Holden P,Lim PJ,Gould DB,Rohrbach M,Giunta C,Bächinger HP
Thu Jan 16 00:00:00 EST 2020
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
American journal of human genetics
Baumann M,Giunta C,Krabichler B,Rüschendorf F,Zoppi N,Colombi M,Bittner RE,Quijano-Roy S,Muntoni F,Cirak S,Schreiber G,Zou Y,Hu Y,Romero NB,Carlier RY,Amberger A,Deutschmann A,Straub V,Rohrbach M,Steinmann B,Rostásy K,Karall D,Bönnemann CG,Zschocke J,Fauth C
Fri Feb 10 00:00:00 EST 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
American journal of human genetics
Baumann M,Giunta C,Krabichler B,Rüschendorf F,Zoppi N,Colombi M,Bittner RE,Quijano-Roy S,Muntoni F,Cirak S,Schreiber G,Zou Y,Hu Y,Romero NB,Carlier RY,Amberger A,Deutschmann A,Straub V,Rohrbach M,Steinmann B,Rostásy K,Karall D,Bönnemann CG,Zschocke J,Fauth C
Fri Feb 10 00:00:00 EST 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
American journal of human genetics
Baumann M,Giunta C,Krabichler B,Rüschendorf F,Zoppi N,Colombi M,Bittner RE,Quijano-Roy S,Muntoni F,Cirak S,Schreiber G,Zou Y,Hu Y,Romero NB,Carlier RY,Amberger A,Deutschmann A,Straub V,Rohrbach M,Steinmann B,Rostásy K,Karall D,Bönnemann CG,Zschocke J,Fauth C
Fri Feb 10 00:00:00 EST 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
American journal of human genetics
Baumann M,Giunta C,Krabichler B,Rüschendorf F,Zoppi N,Colombi M,Bittner RE,Quijano-Roy S,Muntoni F,Cirak S,Schreiber G,Zou Y,Hu Y,Romero NB,Carlier RY,Amberger A,Deutschmann A,Straub V,Rohrbach M,Steinmann B,Rostásy K,Karall D,Bönnemann CG,Zschocke J,Fauth C
Fri Feb 10 00:00:00 EST 2012