Kategorie:
PubID
Gen
MIM
24715559 Dijk
ALPL
4014312 Osteogenesis imperfecta with unusual skeletal lesions: report of three families.
ANO5
20301755 Van Maldergem L, Dobyns W, Kornak U. ATP6V0A2-Related Cutis Laxa. 2009 Mar 19 [Updated 2015 Feb 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5200/
ATP6V0A2
20301422 Malfait F, Wenstrup R, De Paepe A. Ehlers-Danlos Syndrome, Classic Type. 2007 May 29 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/
B4GALT7
24715559 Dijk
BMP1
24715559 Dijk
COL1A1
24715559 Dijk
COL1A2
24715559 Dijk
CREB3L1
24715559 Dijk
CRTAP
24715559 Dijk
FKBP10
26394607 Bonafe, Luisa, et al. "Nosology and classification of genetic skeletal disorders: 2015 revision." American journal of medical genetics Part A 167.12 (2015): 2869-2892.
GORAB
24715559 Dijk
IFITM5
26394607 Bonafe, Luisa, et al. "Nosology and classification of genetic skeletal disorders: 2015 revision." American journal of medical genetics Part A 167.12 (2015): 2869-2892.
LRP5
26394607 Bonafe, Luisa, et al. "Nosology and classification of genetic skeletal disorders: 2015 revision." American journal of medical genetics Part A 167.12 (2015): 2869-2892.
NOTCH2
24715559 Dijk
P3H1
26394607 Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, et al. Am J Med Genet A. 2015 Dec; 167(12):2869-92. Epub 2015 Sep 23.
P4HB
24715559 Dijk
PLOD2
24715559 Dijk
PLS3
24715559 Dijk
PPIB
26394607 Bonafe, Luisa, et al. "Nosology and classification of genetic skeletal disorders: 2015 revision." American journal of medical genetics Part A 167.12 (2015): 2869-2892.
PYCR1
26394607 Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, et al. Am J Med Genet A. 2015 Dec; 167(12):2869-92. Epub 2015 Sep 23.
SEC24D
24715559 Dijk
SERPINF1
24715559 Dijk
SERPINH1
24715559 Dijk
SP7
26027498 Mendoza-Londono, R., Fahiminiya, S., Majewski, J., T�reault, M., Nadaf, J., Kannu, P., ...
SPARC
24715559 Dijk
TMEM38B
26394607 Bonafe, Luisa, et al. "Nosology and classification of genetic skeletal disorders: 2015 revision." American journal of medical genetics Part A 167.12 (2015): 2869-2892.
TNFRSF11B
24715559 Dijk
WNT1
26394607 Bonafe, Luisa, et al. "Nosology and classification of genetic skeletal disorders: 2015 revision." American journal of medical genetics Part A 167.12 (2015): 2869-2892.
XYLT2