Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.

Danda, Sumita; van Rahden, Vanessa A; John, Deepa; Paul, Padma; Raju, Renu; Koshy, Santosh; Kutsche, Kerstin.

Afiliação

Danda S; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India.
van Rahden VA; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
John D; Department of Ophthalmology, Christian Medical College and Hospital, Vellore, India.
Paul P; Department of Ophthalmology, Christian Medical College and Hospital, Vellore, India.
Raju R; Department of Ophthalmology, Christian Medical College and Hospital, Vellore, India.
Koshy S; Department of Dental Surgery, Christian Medical College and Hospital, Vellore, India.
Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Mol Syndromol ; 5(5): 251-6, 2014 Aug.

Article em En | MEDLINE | ID: mdl-25337074