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Page 1
Cervical meningocele and associated spinal anomalies.
Delashaw JB, Park TS, Cail WM, Vollmer DG. Delashaw JB, et al. Childs Nerv Syst. 1987;3(3):165-9. doi: 10.1007/BF00717894. Childs Nerv Syst. 1987. PMID: 3652068
Four patients with cervical meningocele are presented with radiographic evaluation and clinical course. Multiple abnormalities were documented radiographically and operatively, including hydrocephalus, Chiari malformation, hydromyelia, lipomeningomyelocele, tethered cord, …
Four patients with cervical meningocele are presented with radiographic evaluation and clinical course. Multiple abnormalities were d …
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Haghighi A, et al. Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Orphanet J Rare Dis. 2014. PMID: 25208612 Free PMC article. Review.
RESULTS: Sequence analysis of AGK revealed compound heterozygous or homozygous predicted loss-of-function mutations in all affected individuals. A total of eight different disease alleles were identified, of which six were novel, homozygous c.523_524delAT (p.Ile175Tyrfs*2) …
RESULTS: Sequence analysis of AGK revealed compound heterozygous or homozygous predicted loss-of-function mutations in all affected i …
Cervical myelomeningocele--follow-up of five patients.
Meyer-Heim AD, Klein A, Boltshauser E. Meyer-Heim AD, et al. Eur J Paediatr Neurol. 2003;7(6):407-12. doi: 10.1016/s1090-3798(03)00108-9. Eur J Paediatr Neurol. 2003. PMID: 14623220