PubMed (cited) for id: 600373

Year	Number of Results
1991	1
1995	1
2001	1
2010	1
2015	2
2024	0

1

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafé L, Rivolta C, Unger S, Superti-Furga A. Royer-Bertrand B, et al. Sci Rep. 2015 Nov 24;5:17154. doi: 10.1038/srep17154. Sci Rep. 2015. PMID: 26598328 Free PMC article.

2

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. Strauss KA, et al. Am J Hum Genet. 2015 Jan 8;96(1):121-35. doi: 10.1016/j.ajhg.2014.12.003. Am J Hum Genet. 2015. PMID: 25574826 Free PMC article.

3

Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis.

Marlin S, Ducou Le Pointe H, Le Merrer M, Portnoi MF, Chantot S, Jonard L, Mantel-Guiochon A, Siffroi JP, Garabedian EN, Denoyelle F. Marlin S, et al. Am J Med Genet A. 2010 Jun;152A(6):1510-4. doi: 10.1002/ajmg.a.33242. Am J Med Genet A. 2010. PMID: 20503327

4

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.

Innes AM, Chudley AE, Reed MH, Shuckett EP, Hildes-Ripstein GE, Greenberg CR. Innes AM, et al. Am J Med Genet. 2001 Jul 22;102(1):44-7. doi: 10.1002/1096-8628(20010722)102:1<44::aid-ajmg1410>3.0.co;2-7. Am J Med Genet. 2001. PMID: 11471171 Review.

5

CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report.

de Almeida JC, Vargas FR, Barbosa-Neto JG, Llerena JC Jr. de Almeida JC, et al. Am J Med Genet. 1995 Jan 2;55(1):19-20. doi: 10.1002/ajmg.1320550107. Am J Med Genet. 1995. PMID: 7702089

6

Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report.

Shebib SM, Reed MH, Shuckett EP, Cross HG, Perry JB, Chudley AE. Shebib SM, et al. Am J Med Genet. 1991 Jul 1;40(1):88-93. doi: 10.1002/ajmg.1320400118. Am J Med Genet. 1991. PMID: 1887855

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