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Quoted phrase not found in phrase index: "Distal arthrogryposis type 10"
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Bone densities and bone geometry in children and adolescents with arthrogryposis.
Dahan-Oliel N, Collins J, Rauch D, Bukovy G, Hamdy R, Rauch F. Dahan-Oliel N, et al. Bone. 2020 Aug;137:115454. doi: 10.1016/j.bone.2020.115454. Epub 2020 May 25. Bone. 2020. PMID: 32464275
RESULTS: Lumbar spine areal bone mineral density (BMD) was measured in 58 participants (mean age 6.8 years, range 1 month to 19.7 years; 26 males). The diagnostic subgroup was Amyoplasia in 27 participants, distal arthrogryposis (unclassified, n = 13; type 2A …
RESULTS: Lumbar spine areal bone mineral density (BMD) was measured in 58 participants (mean age 6.8 years, range 1 month to 19.7 years; 26 …
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Li S, You Y, Gao J, Mao B, Cao Y, Zhao X, Zhang X. Li S, et al. BMC Med Genet. 2018 Oct 3;19(1):179. doi: 10.1186/s12881-018-0692-8. BMC Med Genet. 2018. PMID: 30285720 Free PMC article.
BACKGROUND: Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. ...In Family 2, for the LOD score that did not favor …
BACKGROUND: Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple …
Pulmonary disease is a component of distal arthrogryposis type 5.
Williams MS, Elliott CG, Bamshad MJ. Williams MS, et al. Am J Med Genet A. 2007 Apr 1;143A(7):752-6. doi: 10.1002/ajmg.a.31648. Am J Med Genet A. 2007. PMID: 17345626
We report on a three-generation family with distal arthrogryposis type 5 (DA5). The family has four affected members in three generations with an apparent autosomal dominant pattern of inheritance. ...Cardiac catheterization documented pulmonary artery pressu …
We report on a three-generation family with distal arthrogryposis type 5 (DA5). The family has four affected members in …
Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
Pantera H, Hu B, Moiseev D, Dunham C, Rashid J, Moran JJ, Krentz K, Rubinstein CD, Won S, Li J, Svaren J. Pantera H, et al. Hum Mol Genet. 2020 Jun 27;29(10):1689-1699. doi: 10.1093/hmg/ddaa082. Hum Mol Genet. 2020. PMID: 32356557 Free PMC article.
The duplication of a 1.4 Mb segment surrounding this gene in chromosome 17p12 (c17p12) causes the most common form of Charcot-Marie-Tooth disease type 1A, whereas the reciprocal deletion of this gene causes a separate neuropathy termed hereditary neuropathy with liability …
The duplication of a 1.4 Mb segment surrounding this gene in chromosome 17p12 (c17p12) causes the most common form of Charcot-Marie-Tooth di …