• <em>FLNB</em> Disorders
• A mild form of Stickler syndrome type II caused by mosaicism of COL11A1
• Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission
• Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations
• Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
• Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
• Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach
• Dietary inorganic nitrate reverses features of metabolic syndrome in endothelial nitric oxide synthase-deficient mice
• Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in an adult
• Larsen syndrome: a review of the literature and case report
• Management of upper cervical kyphosis in an adolescent with Larsen's syndrome
• On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene
• Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features
• Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue
• Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review
• The bacterial microbiota in first-void urine from men with and without idiopathic urethritis
• The management of knee dislocation in a child with Larsen syndrome
• The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
• TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy