Cat Eye Syndrome: Clinical, Cytogenetics and Familial Findings in a Large Cohort of 43 Patients Highlighting the Importance of Congenital Heart Disease and Inherited Cases.

Guillaume Jedraszak,Florence Jobic,Aline Receveur,Frederic Bilan,Brigitte Gilbert-Dussardier,Busa Tiffany,Chantal Missirian,Marjolaine Willems,Sylvie Odent,Josette Lucas,Christele Dubourg,Elise Schaefer,Sophie Scheidecker,James Lespinasse,Alice Goldenberg,Anne-Marie Guerrot,Geraldine Joly-Helas,Pascal Chambon,Cedric Le Caignec,Albert David,Charles Coutton,Veronique Satre,Gaelle Vieville,Florence Amblard,Radu Harbuz,Damien Sanlaville,Marianne Till,Catherine Vincent-Delorme,Cindy Colson,Joris Andrieux,Sophie Naudion,Jerome Toutain,Caroline Rooryck-Thambo,Benedicte de Freminville,Fabienne Prieur,Valerie Cormier Daire,Daniel Amram,Pascale Kleinfinger, Matthias B. Schulze,Gisela Raabe-Meyer,Carolina Courage,Johannes Lemke,Eunice G. Stefanou,Thomaidis Loretta,Manolakos Emmanouil,Sophia Kitsiou Tzeli,Henryka Sodowska,Jasen Anderson,Adayapalam Nandini,Henri Copin,Loic Garcon,Thomas Liehr,Gilles Morin

American Journal of Medical Genetics Part A（2023）

Cited 1|Views24

Key words

array-CGH,22q11.2 region,cat eye syndrome,congenital heart disease,eye anomalies,familial disease,FISH,heart defect,mosacism,parental transmission,small supernumerary marker chromosome (sSMC)

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