Case report identification of a new variant of the mbtps1 gene of the kondo-fu type of spondyloepiphyseal dysplasia (sedkf) in a saudi patient

HIGHLIGHTS

• who: Maha Alotaibi and collaborators from the Department of Genetic, Children`s Hospital, King Saud Medical City, Riyadh, Saudi Arabia Collage of Medicine, King Saud Bin Medical Abdul-Aziz University for Health Sciences, Riyadh, Saudi Arabia have published the research: Case Report Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient, in the Journal: Case Reports in Pediatrics of 25/Oct/2022
• what: The authors examined a Saudi consanguineous family.

SUMMARY

A diverse range of heritable disorders known . . .

 



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