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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.
(2016) Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. European Journal of Human Genetics. pp. 1627-1629.