• <em>CHST3</em>-Related Skeletal Dysplasia
• <em>FLNB</em> Disorders
• Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome
• B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum
• Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)
• Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations
• Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration
• Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
• Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7
• Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia
• Faulty initiation of proteoglycan synthesis causes cardiac and joint defects
• Genetic counseling and ultrasonographic prenatal diagnosis of skeletal dysplasias in monogenic and chromosomal syndromes
• Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016
• Larsen syndrome: a review of the literature and case report
• Larsen-syndrome: final diagnosis following multiple surgical interventions
• Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features
• Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome
• Prenatal diagnosis and obstetric management of Larsen syndrome
• Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue
• The differential symptomatology of errors of collagen metabolism: a tentative classification
• Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability