Background and methods: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disease caused by loss-of-function variants in the ADA2 gene. DADA2 typically presents in childhood an
Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease characterized by neoplastic-like proliferation of abnormal smooth muscle–like cells, primarily driven by mutations in the TSC2 gene.
Background and methods: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disease caused by loss-of-function variants in the ADA2 gene. DADA2 typically presents in childhood an
CTNNB1 syndrome is a rare monogenetic disorder caused by CTNNB1 de novo pathogenic heterozygous loss-of-function variants that result in cognitive and motor disabilities. Treatment is currently lackin
