Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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(2020) Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. American Journal of Medical Genetics, Part A. pp. 957-961.
(2020) A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II). Frontiers in Pediatrics.