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Volumn 34, Issue 1-2, 2013, Pages 65-68

Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family

Author keywords

Blepharo naso facial syndrome; Nablus mask like syndrome

Indexed keywords

GENOMIC DNA;

EID: 84876064443     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.695423     Document Type: Article
Times cited : (3)

References (8)
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  • 2
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    • Nablus mask-like facial syndrome
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  • 4
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    • Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness
    • Sommer A, Young-Wee T, Frye T. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet 1983;15(1):71-77.
    • (1983) Am J Med Genet , vol.15 , Issue.1 , pp. 71-77
    • Sommer, A.1    Young-Wee, T.2    Frye, T.3
  • 5
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    • A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome
    • Stoll C, Terzic J, Fischbach M. A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome. Genet Couns 1999;10:337-343.
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  • 6
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    • The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature
    • Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, et al. The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. Eur J Med Genet 2009;52:140-144.
    • (2009) Eur J Med Genet , vol.52 , pp. 140-144
    • Raas-Rothschild, A.1    Dijkhuizen, T.2    Sikkema-Raddatz, B.3
  • 7
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    • Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization
    • Shieh JT, Aradhya S, Novelli A, et al. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Am J Med Genet A 2006;140:1267-1273.
    • (2006) Am J Med Genet A , vol.140 , pp. 1267-1273
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    • Craniofacial-deafnesshand syndrome revisited
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.