Saethre–Chotzen mutations cause TWIST protein degradation or impaired nuclear location

By El Ghouzzi Vincent   Legeai-Mallet Laurence   Aresta Sandra   Benoist Catherine   Munnich Arnold   Gunzburg Jean de   Bonaventure Jacky  

Human Molecular Genetics, Vol. 9, Iss. 5, 2000-03 ,pp. : 813-819

Oxford University Press

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Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9

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CONGENITAL ANOMALIES, Vol. 58, Iss. 1, 2018-01 ,pp. : 33-35

John Wiley & Sons Inc

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A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre–Chotzen syndrome

By Guenou Hind   Kaabeche Karim   Mée Sandrine Le   Marie Pierre J.  

Human Molecular Genetics, Vol. 14, Iss. 11, 2005-06 ,pp. : 1429-1439

Oxford University Press

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Translocation Breakpoint Maps 5 kb 3′ from TWIST in a Patient Affected with Saethre-Chotzen Syndrome

By Krebs Inge  

Human Molecular Genetics, Vol. 6, Iss. 7, 1997-01 ,pp. : 1079-1086

Oxford University Press

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The variable expressivity and incomplete penetrance of the twist -null heterozygous mouse phenotype resemble those of human Saethre–Chotzen syndrome

By Bourgeois P.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 945-959

Oxford University Press

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