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Volumn 28, Issue 9-10, 2015, Pages 1005-1007

Perrault syndrome with growth hormone deficiency: A rare autosomal recessive disorder

Author keywords

gonadal dysgenesis; growth hormone deficiency (GHD); Perrault syndrome

Indexed keywords

SOMATOMEDIN C; HUMAN GROWTH HORMONE;

EID: 84941131563     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2014-0292     Document Type: Article
Times cited : (3)

References (9)
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    • Two cases of Turner syndrome with deaf-mutism in two sisters
    • Perrault M, Klotz B, Housset E. Two cases of Turner syndrome with deaf-mutism in two sisters. Bull Mem Soc Med Hop Paris 1951;67:79-84.
    • (1951) Bull Mem Soc Med Hop Paris , vol.67 , pp. 79-84
    • Perrault, M.1    Klotz, B.2    Housset, E.3
  • 2
    • 77955574455 scopus 로고    scopus 로고
    • Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome
    • Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, et al. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome. Am J Hum Genet 2010;87:282-8.
    • (2010) Am J Hum Genet , vol.87 , pp. 282-288
    • Pierce, S.B.1    Walsh, T.2    Chisholm, K.M.3    Lee, M.K.4    Thornton, A.M.5
  • 3
    • 43049149104 scopus 로고    scopus 로고
    • Perrault syndrome: Report of four new cases, review and exclusion of candidate genes
    • Marlin S, Lacombe D, Jonard L, Leboulanger N, Bonneau D, et al. Perrault syndrome: report of four new cases, review and exclusion of candidate genes. Am J Med Genet A 2008;146A:661-4.
    • (2008) Am J Med Genet A , vol.146 A , pp. 661-664
    • Marlin, S.1    Lacombe, D.2    Jonard, L.3    Leboulanger, N.4    Bonneau, D.5
  • 4
    • 0026558504 scopus 로고
    • Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault syndrome
    • Cruz OL, Pedalini ME, Caropreso CA. Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault syndrome. Am J Otol 1992;13:82-3.
    • (1992) Am J Otol , vol.13 , pp. 82-83
    • Cruz, O.L.1    Pedalini, M.E.2    Caropreso, C.A.3
  • 8
    • 79955634426 scopus 로고    scopus 로고
    • Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
    • Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci 2011;108:6543-8.
    • (2011) Proc Natl Acad Sci , vol.108 , pp. 6543-6548
    • Pierce, S.B.1    Chisholm, K.M.2    Lynch, E.D.3    Lee, M.K.4    Walsh, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.