• <em>FAM46A</em> mutations are responsible for autosomal recessive osteogenesis imperfecta
• A novel termination site in a case of Stuve-Wiedemann syndrome: case report and review of literature
• A rare presentation of multiple eruptive vellus hair cysts and dystrophic nails in a pediatric patient with Stuve-Wiedemann syndrome
• Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stuve-Wiedemann syndrome
• Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome
• Anesthesia for Stuve-Wiedemann syndrome: a rare adult patient case report
• Are there febrile diseases with a risk of sudden death in children?
• Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome
• Bilateral giant retinal tears in a pediatric patient with leukemia inhibitory factor receptor deficiency (Stuve-Wiedemann syndrome)
• Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome
• Case report of prenatal diagnosis of Stuve-Wiedemann Syndrome in a woman with another child affected too
• Case Report: Stuve-Wiedemann syndrome-a rare cause of persistent pulmonary hypertension of the newborn
• Characterization of a long-term survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome
• Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
• Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review
• Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas
• Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum
• Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2
• Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant
• Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
• Defects in tongue papillae and taste sensation indicate a problem with neurotrophic support in various neurological diseases
• Delayed Tetraplegia After Thoracolumbar Scoliosis Surgery in Stuve-Wiedemann Syndrome
• Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature
• Developments in the Orthopaedic Management of Children With Stuve-Wiedemann Syndrome: Use of the Fassier-Duval Telescopic Rod to Maintain Correction of Deformity
• Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function
• Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome
• Homoplasmy of a mitochondrial 3697G&gt;A mutation causes Leigh syndrome
• Implications of neuropathy and management of the corneal surface in a patient with Stuve-Wiedemann syndrome
• In vitro readthrough of termination codons by gentamycin in the Stuve-Wiedemann Syndrome
• Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stuve-Wiedemann Syndrome
• Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement
• Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report
• Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia
• Management of a short femur discovered via ultrasound in utero. Prenatal diagnosis of Stuve-Wiedemann syndrome
• Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation
• Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy
• Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes
• Mutations in LIFR rewire the JAK/STAT signaling pathway: A study unveiling mechanistic details of Stuve-Wiedemann syndrome
• Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome
• Neuroparalytic keratopathy in Stuve-Wiedemann syndrome treated with tarsoconjunctival flap
• Neuropathies of Stuve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene
• New insights in congenital bowing of the femora
• Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?
• Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
• Ocular treatment of children with Stuve-Wiedemann syndrome
• One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome
• Oral ulceration in Stuve-Wiedemann syndrome: a new presentation
• Paediatric survivors beyond infancy with Stuve-Wiedemann syndrome - A case series from the West Midlands, UK
• Presentation of six cases of Stuve-Wiedemann syndrome
• Rhabdomyolysis in Stuve-Wiedemann syndrome
• Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: a case for "lumping"
• Schwartz-Jampel syndrome type 2 versus Stuve-Wiedemann syndrome
• Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease
• Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications
• Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy
• Stüve-Wiedemann syndrom mimicking neonatal sepsis
• Stuve-Wiedemann syndrome
• Stuve-Wiedemann syndrome and defects of the mitochondrial respiratory chain
• Stuve-Wiedemann syndrome and related bent bone dysplasias
• Stuve-Wiedemann syndrome in a neonate
• Stuve-Wiedemann syndrome in children surviving infancy: clinical and radiological features
• Stuve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate
• Stuve-Wiedemann syndrome with a novel mutation
• Stuve-Wiedemann syndrome with a novel mutation in a Saudi infant
• Stuve-Wiedemann syndrome with multiple eruptive vellus hair cysts and clefted tongue
• Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones
• Stuve-Wiedemann syndrome: is it underrecognized?
• Stuve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology
• Stuve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity
• Stuve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway
• Stuve-Wiedemann syndrome: update and historical footnote
• Stuve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects
• The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants
• The LIF cytokine: towards adulthood
• The orthopaedic manifestations and management of children with Stuve-Wiedemann syndrome
• Ultrasound findings of a rare congenital skeletal dysplasia: Stuve-Wiedemann syndrome
• Unusual Stuve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy