A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff–Parkinson–White syndrome

Author:

Le Gloan Laurianne,Pichon Olivier,Isidor Bertrand,Boceno Michelle,Rival Jean-Marie,David Albert,Le Caignec Cédric

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference12 articles.

1. Jagged1 mutations in alagille syndrome;Spinner;Hum. Mutat.,2001

2. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the NOTCH signalling pathway;McDaniell;Am. J. Hum. Genet.,2006

3. Identification of a gene responsible for familial Wolff–Parkinson–White syndrome;Gollob;N. Engl. J. Med.,2001

4. Molecular genetic analysis of PRKAG2 in sporadic Wolff–Parkinson–White syndrome;Vaughan;J. Cardiovasc. Electrophysiol.,2003

5. J.V. Thakuria, S. Waisbren, G.F. Cox, Novel chromosome 20p12.3 deletion associated with learning difficulties and dysmorphic features in a mother and son, Abstract 605, in: Presented at the Annual Meeting of the American Society of Human Genetics, October 26, San Diego, California, 2007.

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