Gardner RJ. A new estimate of the achondroplasia mutation rate. Clin Genet. 1977 Jan. 11(1):31-8. [QxMD MEDLINE Link].
Pauli RM, Legare JM, Adam MP, et al. Achondroplasia. 1993 [updated 2018 May 10]. [QxMD MEDLINE Link]. [Full Text].
Ezquieta Zubicaray B, Iguacel AO, Varela Junquera JM, et al. Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochondroplasia in the Spanish population. Med Clin (Barc). 1999 Mar 6. 112(8):290-3. [QxMD MEDLINE Link].
Francomano CA, Ortiz de Luna RI, Hefferon TW, et al. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Hum Mol Genet. 1994 May. 3(5):787-92. [QxMD MEDLINE Link].
Rousseau F, Bonaventure J, Legeai-Mallet L, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature. 1994 Sep 15. 371(6494):252-4. [QxMD MEDLINE Link].
Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994 Jul 29. 78(2):335-42. [QxMD MEDLINE Link].
Tavormina PL, Bellus GA, Webster MK, et al. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet. 1999 Mar. 64(3):722-31. [QxMD MEDLINE Link].
Wilkin DJ, Szabo JK, Cameron R, et al. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet. 1998 Sep. 63(3):711-6. [QxMD MEDLINE Link].
Teven CM, Farina EM, Rivas J, Reid RR. Fibroblast growth factor (FGF) signaling in development and skeletal diseases. Genes Dis. 2014 Dec 1. 1 (2):199-213. [QxMD MEDLINE Link]. [Full Text].
Schlüter B, De Sousa G, Trowitzsch E, Andler W. Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). Georgian Med News. 2011 Jul-Aug. 63-72. [QxMD MEDLINE Link].
Le Merrer M, Rousseau F, Legeai-Mallet L, et al. A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. Nat Genet. 1994 Mar. 6(3):318-21. [QxMD MEDLINE Link].
Velinov M, Slaugenhaupt SA, Stoilov I, et al. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet. 1994 Mar. 6(3):314-7. [QxMD MEDLINE Link].
He X, Xie F, Ren ZR. Rapid Detection of G1138A and G1138C Mutations of FGFR3 Gene in Patients with Achondroplasia Using High-Resolution Melting Analysis. Genet Test Mol Biomarkers. 2012 Feb 17. [QxMD MEDLINE Link].
Bellus GA, Bamshad MJ, Przylepa KA, et al. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Am J Med Genet. 1999 Jul 2. 85(1):53-65. [QxMD MEDLINE Link].
Di Rocco F, Biosse Duplan M, Heuze Y, et al. FGFR3 mutation causes abnormal membranous ossification in achondroplasia. Hum Mol Genet. 2014 Jun 1. 23 (11):2914-25. [QxMD MEDLINE Link]. [Full Text].
Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet. 1986 Aug. 23(4):328-32. [QxMD MEDLINE Link].
Engberts AC, Jacobs WC, Castelijns SJ, Castelein RM, Vleggeert-Lankamp CL. The prevalence of thoracolumbar kyphosis in achondroplasia: a systematic review. J Child Orthop. 2012 Mar. 6(1):69-73. [QxMD MEDLINE Link]. [Full Text].
Zaffanello M, Piacentini G, Sacchetto L, et al. Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records. Med Princ Pract. 2018 Jun 21. [QxMD MEDLINE Link]. [Full Text].
Susarla SM, Mundinger GS, Kapadia H, et al. Subcranial and orthognathic surgery for obstructive sleep apnea in achondroplasia. J Craniomaxillofac Surg. 2017 Dec. 45 (12):2028-34. [QxMD MEDLINE Link].
Ceroni JRM, Soares DCQ, Testai LC, et al. Natural history of 39 patients with achondroplasia. Clinics (Sao Paulo). 2018 Jul 2. 73:e324. [QxMD MEDLINE Link]. [Full Text].
Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N. Sleep-Related Respiratory Abnormalities and Arousal Pattern in Achondroplasia during Early Infancy. J Pediatr. 2009 Jul 14. [QxMD MEDLINE Link].
Sims DT, Onambele-Pearson GL, Burden A, Payton C, Morse CI. Morphological and Mechanical Properties of the Human Patella Tendon in Adult Males With Achondroplasia. Front Physiol. 2018. 9:867. [QxMD MEDLINE Link]. [Full Text].
Xue Y, Sun A, Mekikian PB, et al. FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Mol Genet Genomic Med. 2014 Nov. 2 (6):497-503. [QxMD MEDLINE Link]. [Full Text].
Hall JG, Horton W, Kelly T, Scott CI. Head growth in achondroplasia: use of ultrasound studies. Am J Med Genet. 1982 Sep. 13(1):105. [QxMD MEDLINE Link].
Gugliantini P, Maragliano G, Piscione M, Licata G. Constitutional osteochondrodysplasias identifiable at birth. A short review on the state of the art in radiodiagnosis in the late 20th century. Radiol Med (Torino). 1999 Mar. 97(3):116-20. [QxMD MEDLINE Link].
Keiper GL Jr, Koch B, Crone KR. Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 1999 Aug. 31(2):78-83. [QxMD MEDLINE Link].
Mehta A, Hindmarsh PC. The use of somatropin (recombinant growth hormone) in children of short stature. Paediatr Drugs. 2002. 4(1):37-47. [QxMD MEDLINE Link].
Savarirayan R, Tofts L, Irving M, et al. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020 Sep 5. 396 (10252):684-92. [QxMD MEDLINE Link].
Savarirayan R, Tofts L, Irving M, et al. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genet Med. 2021 Dec. 23 (12):2443-7. [QxMD MEDLINE Link]. [Full Text].
Hoover-Fong JE, Schulze KJ, McGready J, Barnes H, Scott CI. Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. Am J Clin Nutr. 2008 Aug. 88(2):364-71. [QxMD MEDLINE Link].
Keiper GL Jr, Koch B, Crone KR. Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 1999 Aug. 31(2):78-83. [QxMD MEDLINE Link].
Seino Y, Yamanaka Y, Shinohara M, et al. Growth hormone therapy in achondroplasia. Horm Res. 2000. 53 Suppl 3:53-6. [QxMD MEDLINE Link].
Stamoyannou L, Karachaliou F, Neou P, et al. Growth and growth hormone therapy in children with achondroplasia: a two-year experience. Am J Med Genet. 1997 Oct 3. 72(1):71-6. [QxMD MEDLINE Link].
Weber G, Prinster C, Meneghel M, et al. Human growth hormone treatment in prepubertal children with achondroplasia. Am J Med Genet. 1996 Feb 2. 61(4):396-400. [QxMD MEDLINE Link].
Hertel NT, Eklof O, Ivarsson S, et al. Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. Acta Paediatr. 2005 Oct. 94(10):1402-10. [QxMD MEDLINE Link].
[Guideline] Trotter TL, Hall JG, American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 2005 Sep. 116(3):771-83. [QxMD MEDLINE Link].