A deletion mutation along with a novel DNA variation in OCRL cause Lowe syndrome in a child with multiple secondary manifestations

• Alireza Paniri,
• Sadegh Fattahi,
• Ahmad Rasoulinejad,
• Haleh Akhavan-Niaki

Affiliations

Alireza Paniri

Haleh Akhavan-Niaki. Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol 4717647745, Iran. [email protected]

Sadegh Fattahi

North Research Center, Pasteur Institute of Iran, Amol 4619332976, Iran

Ahmad Rasoulinejad

Department of Ophthalmology, Rouhani Hospital, Babol University of Medical Sciences, Babol 4717647745, Iran

Haleh Akhavan-Niaki

Department of Genetics, Babol University of Medical Sciences, Babol 4717647745, Iran; Akhavan-Niaki Genetics Laboratory, Babol 4714957534, Iran