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RBBP8 syndrome with microcephaly,intellectual disability,short stature and brachydactyly
Authors:Sara Mumtaz  Esra Yıldız  Saliha Jabeen  Amjad Khan  Aslıhan Tolun  Sajid Malik
Affiliation:1. Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences, Quaid‐i‐Azam University, Islamabad, Pakistan;2. Department of Molecular Biology and Genetics, Bo?azi?i University, Istanbul, Turkey;3. Correspondence to:;4. Sajid Malik, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid‐i‐Azam University, Islamabad, Pakistan.;5. E‐mail:;6. Asl?han Tolun, Department of Molecular Biology and Genetics, Bo?azi?i University, Istanbul, Turkey.;7. E‐mail:
Abstract:
Keywords:RBBP8  mutation  intellectual disability  mental retardation  microcephaly  short stature  anonychia  Pakistani family  consanguineous  inbreeding coefficient
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