AUTHOR CONTRIBUTIONS
M. Edizadeh performed WES data analysis, variant interpretation,
bio-informatics measurements and wrote
the manuscript. N.
Chegeninezhad performed WES, Sanger sequencing and co-segregation
analysis. S. Akbari made clinical diagnosis. R. Pakmanesh designed
primers and extracted DNA from peripheral blood samples. M. Salehirad
performed PCR and Sanger sequencing. S. Ahmadipour made patient work-up
and management. K. Hayatigolkhatmi wrote and revised the manuscript. H.
Khodadadi supervised the study, revised and finalized the manuscript,
supported the study financially.