Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family

J Dermatol. 2020 Nov;47(11):e382-e383. doi: 10.1111/1346-8138.15565. Epub 2020 Aug 30.

Naveed Wasif^{1

2

3}, Asia Parveen^{2

4}, Hina Bashir⁵, Fareeha Ashraf², Ehtasham Ali⁶, Kashif Raza Khan⁷, Amina Arif⁴

¹ Institute of Human Genetics, University of Ulm and University of Ulm Medical Center, Ulm, Germany.
² Institute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), University of Lahore, Lahore, Pakistan.
³ Institute of Human Genetics, University Hospital Schleswig-Holstein, Kiel, Germany.
⁴ Faculty of Life Sciences, University of Central Punjab (UCP), Lahore, Pakistan.
⁵ Department of Biochemistry, Sharif Medical and Dental College, Lahore, Pakistan.
⁶ Center for Professional Studies (CPS), University of Central Punjab, Sialkot, Pakistan.
⁷ Department of Ophthalmology, Government Kot Khawaja Saeed Teaching Hospital, King Edward Medical University, Lahore, Pakistan.

No abstract available

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