Disease: Larsen like syndrome- lethal type
- <em>FLNB</em> Disorders
- Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia
- Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome
- Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome
- Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue
- Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB
- The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer