Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature

European Journal of Medical Genetics - Tập 58 - Trang 293-299 - 2015
Ola Khalifa1,2, Zahra Al-Sahlawi1, Faiqa Imtiaz3, Khushnooda Ramzan3, Rabab Allam3, Abeer Al-Mostafa3, Maaly Abdel-Fattah4,5, Gheid Abuharb6, Michael Nester7, Alain Verloes8, Hamad Al-Zaidan1
1Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
2Department of Pediatrics, Clinical Genetics Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt
3Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
4Department of Ophthalmology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
5Department of Ophthalmology, Faculty of Medicine, Cairo University, Cairo, Egypt
6Department of Otolaryngology/Head and Neck Surgery and Communication Sciences, Section of Audiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
7Department of Neuropsychology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
8Department of Medical Genetics, AP-HP Robert DEBRE University Hospital and INSERM U676, Paris, France

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European Journal of Medical Genetics

Tập 58

293-299

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