Anauxetic dysplasia
Definition:
References:
-
[1]. Christian T Thiel, et al. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet. 2005 Nov;77(5):795-806. [Content Brief]
[2]. D Horn, et al. Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. J Med Genet. 2001 Apr;38(4):262-5. [Content Brief]
[3]. Dhanya L Narayanan, et al. An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. Am J Med Genet A. 2019 Sep;179(9):1709-1717. [Content Brief]
[4]. J Barraza-García, et al. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. Clin Genet. 2017 Jul;92(1):91-98. [Content Brief]
Molarity Calculator
Dilution Calculator
