Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

被引:0
作者
Elisa Tassano
Marisol Mirabelli-Badenier
Edvige Veneselli
Aldamaria Puliti
Margherita Lerone
Carlotta Maria Vaccari
Giovanni Morana
Simona Porta
Giorgio Gimelli
Cristina Cuoco
机构
[1] Laboratorio di Citogenetica,Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health (DiNOGMI)
[2] Istituto Giannina Gaslini,undefined
[3] Child Neuropsychiatry Unit,undefined
[4] Department of Neurosciences and Rehabilitation,undefined
[5] Istituto Giannina Gaslini,undefined
[6] University of Genoa,undefined
[7] U.O.C. Genetica Medica,undefined
[8] Istituto Giannina Gaslini,undefined
[9] Pediatric Neuroradiology Unit,undefined
[10] Istituto Giannina Gaslini,undefined
来源
Molecular Cytogenetics | / 8卷
关键词
Interstitial deletion; 6q21q22.1; Array-CGH; Karyotype/phenotype correlation; Poland syndrome;
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  • [21] Turolla L(2014)Identification and characterization of the novel Col10a1 regulatory mechanism during chondrocyte hypertrophic differentiation Cell Death Dis 16 e1469-470
  • [22] Cavallari U(1986)Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Mobius anomalies Am J Med Genet 23 903-undefined
  • [23] Gentilin B(1989)Pectoralis major defect and Poland sequence in second cousins: extension of the Poland sequence spectrum Am J Med Genet 33 468-undefined
  • [24] Rossella F(undefined)undefined undefined undefined undefined-undefined
  • [25] Hansson K(undefined)undefined undefined undefined undefined-undefined
  • [26] Szuhai K(undefined)undefined undefined undefined undefined-undefined
  • [27] Knijnenburg J(undefined)undefined undefined undefined undefined-undefined
  • [28] van Haeringen A(undefined)undefined undefined undefined undefined-undefined
  • [29] de Pater J(undefined)undefined undefined undefined undefined-undefined
  • [30] Klein OD(undefined)undefined undefined undefined undefined-undefined