Acrodysostosis with or Without Hormone Resistance (ACRDYS): Types 1 and 2
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1380-1
Reference9 articles.
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2. Graham JM Jr, Krakow D, Tolo VT, Smith AK, Lachman RS (2001) Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. Pediatr Radiol 31(1):2–9
3. Lee H, Graham JM, Rimoin DL, Lachman RS, Krejci P, Tompson SW et al (2012) Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet 90(4):746–751
4. Maroteaux P, Malamut G (1968) Acrodysostosis. Presse Med 76:2189–2192
5. Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E et al (2012) Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet 90(4):740–745
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