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Volumn 9, Issue 3, 2015, Pages OD01-OD02

Perrault syndrome – A rare case report

Author keywords

Karyotype; Pure gonadal dysgenesis; Sensorineural deafness

Indexed keywords

ESTROGEN; PROGESTERONE;

EID: 84923809152     PISSN: 2249782X     EISSN: 0973709X     Source Type: Journal    
DOI: 10.7860/JCDR/2015/10992.5641     Document Type: Article
Times cited : (7)

References (9)
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    • Perrault, M.1    Klotz, B.2    Housset, E.3
  • 2
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    • The Perrault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness
    • Pallister PD, Opitz JM. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet. 1979;4:239.
    • (1979) Am J Med Genet , vol.4 , pp. 239
    • Pallister, P.D.1    Opitz, J.M.2
  • 3
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    • Perrault syndrome: Report of four new cases, review and exclusion of candidate genes
    • Marlin S, Lacombe D, Jonard L, et al. Perrault syndrome: Report of four new cases, review and exclusion of candidate genes. Am J Med Genet. 2008. Part A 146A:661–64.
    • (2008) Am J Med Genet , vol.146A , pp. 661-664
    • Marlin, S.1    Lacombe, D.2    Jonard, L.3
  • 4
    • 34548507977 scopus 로고    scopus 로고
    • Perrault syndrome with Marfanoid habitus in two siblings
    • Jacob JJ, Paul TV, Mathews SS, et al. Perrault syndrome with Marfanoid habitus in two siblings. J Pediatr Adolesc Gynecol. 2007;20:305-08.
    • (2007) J Pediatr Adolesc Gynecol , vol.20 , pp. 305-308
    • Jacob, J.J.1    Paul, T.V.2    Mathews, S.S.3
  • 5
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    • The Perrault syndrome: Clinical report and review
    • Nishi Y, Hamamoto K, Kajiyama M, et al. The Perrault syndrome: Clinical report and review. Am J Med Genet. 1988;31:623-29.
    • (1988) Am J Med Genet , vol.31 , pp. 623-629
    • Nishi, Y.1    Hamamoto, K.2    Kajiyama, M.3
  • 6
    • 84887008922 scopus 로고    scopus 로고
    • Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome
    • Badura-Stronka M, Wawrocka A, Zawieja K, et al. Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome. Mitochondrion. 2013;13(6):831-34.
    • (2013) Mitochondrion , vol.13 , Issue.6 , pp. 831-834
    • Badura-Stronka, M.1    Wawrocka, A.2    Zawieja, K.3
  • 7
    • 3042764752 scopus 로고    scopus 로고
    • Perrault syndrome: Evidence for progressive nervous system involvement
    • Fiumara A, Sorge G, Toscano A, et al. Perrault syndrome: evidence for progressive nervous system involvement. Am J Med Genet A. 2004;128A(3):246-49.
    • (2004) Am J Med Genet A , vol.128A , Issue.3 , pp. 246-249
    • Fiumara, A.1    Sorge, G.2    Toscano, A.3
  • 8
    • 84875944287 scopus 로고    scopus 로고
    • Perrault Syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
    • Jenkinson EM, Rehman AU, Walsh T, et al. Perrault Syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013;92(4):605-13.
    • (2013) Am J Hum Genet , vol.92 , Issue.4 , pp. 605-613
    • Jenkinson, E.M.1    Rehman, A.U.2    Walsh, T.3
  • 9
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    • Perrault syndrome
    • Seattle (WA): University of Washington, Seattle; 1993-2015.Available from, (accessed 22Jan 2015)
    • Pagon RA, Adam MP, Ardinger HH, et al., eds. Perrault syndrome. Gene Reviews. Seattle (WA): University of Washington, Seattle; 1993-2015.Available from http:// www.ncbi.nlm.nih.gov/books/NBK1116/ (accessed 22Jan 2015).
    • Gene Reviews
    • Pagon, R.A.1    Adam, M.P.2    Ardinger, H.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.