Pediatria pre prax 3/2024
Martsolf syndrome – the third case in the family
Martsolf syndrome (MARTS1) is a very rare autosomal recessive disorder that can be caused by a biallelic pathogenic variants (mutations) in the gene encoding the non-catalytic subunit of the GTPase-activating protein RAB3 (RAB3GAP2; OMIM: 609275) on chromosome 1q41. We present the case report of our patient from a family in which 3 cases of this syndrome occurred.
Keywords: Martsolf syndrome, MARTS1, hypogonadism, cataract, newborn
