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Volumn 158 A, Issue 10, 2012, Pages 2542-2544

12q14 microdeletion syndrome and short stature with or without relative macrocephaly

Author keywords

Microdeletion; Relative macrocephaly; Short stature

Indexed keywords

HIGH MOBILITY GROUP A2 PROTEIN;

EID: 84866496457     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35527     Document Type: Article
Times cited : (11)

References (9)
  • 7
    • 0032758850 scopus 로고    scopus 로고
    • The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
    • Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. 1999. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria. J Med Genet 36: 837-842.
    • (1999) J Med Genet , vol.36 , pp. 837-842
    • Price, S.M.1    Stanhope, R.2    Garrett, C.3    Preece, M.A.4    Trembath, R.C.5
  • 8
    • 77953727872 scopus 로고    scopus 로고
    • Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): The SRS phenotype overlaps with the 12q14 microdeletion syndrome
    • Spengler S, Schonherr N, Binder G, Wollmann HA, Fricke-Otto S, Muhlenberg R, Denecke B, Baudis M, Eggermann T. 2010. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): The SRS phenotype overlaps with the 12q14 microdeletion syndrome. J Med Genet 47: 356-360.
    • (2010) J Med Genet , vol.47 , pp. 356-360
    • Spengler, S.1    Schonherr, N.2    Binder, G.3    Wollmann, H.A.4    Fricke-Otto, S.5    Muhlenberg, R.6    Denecke, B.7    Baudis, M.8    Eggermann, T.9
  • 9
    • 0029094755 scopus 로고
    • Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C
    • Zhou X, Benson KF, Ashar HR, Chada K. 1995. Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C. Nature 376: 771-774.
    • (1995) Nature , vol.376 , pp. 771-774
    • Zhou, X.1    Benson, K.F.2    Ashar, H.R.3    Chada, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.