References
1. Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and
update. The Journal of bone and joint surgery American volume.2009;91 Suppl 4:40-46.
2. Hall JG. Arthrogryposis multiplex congenita: etiology, genetics,
classification, diagnostic approach, and general aspects. J
Pediatr Orthop B. 1997;6(3):159-166.
3. Hall JG, Reed SD, Driscoll EP. Part I. Amyoplasia: a common, sporadic
condition with congenital contractures. Am J Med Genet.1983;15(4):571-590.
4. Hall JG, Aldinger KA, Tanaka KI. Amyoplasia revisited. Am J Med
Genet A. 2014;164a(3):700-730.
5. Mirzaa G, Foss K, Nattakom M, Chung WK. PPP2R5D-Related
Neurodevelopmental Disorder. In: Adam MP, Ardinger HH, Pagon RA, et al.,
eds. GeneReviews((R)). Seattle (WA): University of Washington,
SeattleUniversity of Washington, Seattle. GeneReviews is a registered
trademark of the University of Washington, Seattle. All rights
reserved.; 2019.
6. Houge G, Haesen D, Vissers LE, et al. B56delta-related protein
phosphatase 2A dysfunction identified in patients with intellectual
disability. J Clin Invest. 2015;125(8):3051-3062.
7. Biswas D, Cary W, Nolta JA. PPP2R5D-Related Intellectual Disability
and Neurodevelopmental Delay: A Review of the Current Understanding of
the Genetics and Biochemical Basis of the Disorder. Int J Mol
Sci. 2020;21(4).
8. Shang L, Henderson LB, Cho MT, et al. De novo missense variants in
PPP2R5D are associated with intellectual disability, macrocephaly,
hypotonia, and autism. Neurogenetics. 2016;17(1):43-49.
9. Loveday C, Tatton-Brown K, Clarke M, et al. Mutations in the PP2A
regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause
human overgrowth. Hum Mol Genet. 2015;24(17):4775-4779.
10. Yeung KS, Tso WWY, Ip JJK, et al. Identification of mutations in the
PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and
developmental delay and/or autism. Mol Autism. 2017;8:66.
11. Hall JG, Kimber E, van Bosse HJP. Genetics and Classifications.J Pediatr Orthop. 2017;37 Suppl 1:S4-s8.
12. Chong JX, Talbot JC, Teets EM, et al. Mutations in MYLPF cause a
novel segmental amyoplasia that manifests as distal arthrogryposis.Am J Hum Genet. 2020;107(2):293-310.
13. Wilnai Y, Seaver LH, Enns GM. Atypical amyoplasia congenita in an
infant with Leigh syndrome: a mitochondrial cause of severe
contractures? Am J Med Genet A. 2012;158a(9):2353-2357.
14. Tsipouras P, Del Mastro R, Sarfarazi M, et al. Genetic linkage of
the Marfan syndrome, ectopia lentis, and congenital contractural
arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The
International Marfan Syndrome Collaborative Study. N Engl J Med.1992;326(14):905-909.