A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

Author: Aliferis K.   Marsal C.   Pelletier V.   Doray B.   Weiss M.M.   Tops C.M.J.   Speeg-Schatz C.   Lesnik S.A.J.   Dollfus H.  

Publisher: Informa Healthcare

ISSN: 1381-6810

Source: Ophthalmic Genetics, Vol.31, Iss.4, 2010-12, pp. : 205-208

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Abstract