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pro vyhledávání: '"Vivek Dholakiya"'
Autor:
Jayshree Jadhav, D Y Shrikhande, Amol Pokharkar, Vivek Dholakiya, Amit Narkhede, Divyank Pathak
Publikováno v:
International Journal of Medical Research and Health Sciences, Vol 2, Iss 4, Pp 967-969 (2013)
Severe Peter plus Syndrome is a rare autosomal recessive condition that is characterized by ocular anomaly and associated with other systemic major or minor anomalies. Mutations of B3GALTL gene encoding beta 1,3 glucosyltransferase have been seen in