Disease: Fechtner syndrome
- A case report of optic neuropathy following dacryocystorhinostomy in a 57-year-old female patient with May-Hegglin anomaly
- A De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia
- A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities
- A family with an MYH9-related disorder with different phenotypes masquerading as immune thrombocytopaenia: an underreported disorder in Taiwan
- A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome
- A nationwide survey of MYH9-related disease in Japan
- A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature
- A sporadic <em>MYH9</em>-related disease in a Chinese boy with p.A95T mutation
- An interesting case of thrombocytopenia in pregnancy
- Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder
- Anesthetic considerations for May-Hegglin anomaly
- Anesthetic Management of a Patient with May-Hegglin Anomaly
- Anesthetic Management of Living-Donor Renal Transplantation in a Patient With Epstein Syndrome Using Rotational Thromboelastometry: A Case Report
- Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly
- Avatrombopag improves thrombocytopenia in MYH9-related disorder following eltrombopag treatment failure
- Case 4: Hydrocephalus, Macrothrombocytopenia, Inclusion Bodies, and Nephropathy in a 9-year-old Boy
- Cell surface expression of HLA I molecules as a marker of young platelets
- Cellular defects resulting from disease-related myosin II mutations in <em>Drosophila</em>
- Characterization of Sensorineural Hearing Loss in Patients With MYH9-Related Disease: A Systematic Review
- Clinical and genetic features of seven children with MYH9-related disease
- Clinical features and MYH9 gene variant in two Chinese siblings with Fechtner syndrome
- Defective VWF secretion due to expression of MYH9-RD E1841K mutant in endothelial cells disrupts hemostasis
- Delayed diagnosis of MYH-9–related disorder and the role of light microscopy in congenital macrothrombocytopenias
- Diagnosis and treatment of <em>MYH9-</em>RD in an Australasian cohort with thrombocytopenia
- Diagnostic delay of MYH9-related disorder in Japan
- Eltrombopag to Treat Thrombocytopenia During Last Month of Pregnancy in a Woman With MYH9-Related Disease: A Case Report
- Epstein Syndrome
- Expert consensus guidelines for the genetic diagnosis of Alport syndrome
- Familial kidney failure with macro-thrombocytopenia: Answers
- Familial macro thrombocytopenia: role of genetics where morphology fails
- Gene analysis and clinical features of MYH9-related disease
- Genetic analysis of a pedigree affected with inherited thrombocytopenia caused by a novel mutation of MYH9 gene
- Genetic classification and confirmation of inherited platelet disorders: current status in Korea
- Genotype-phenotype correlation of a novel MYH9 mutation (p.G736L) in a patient with macrothrombocytopenia and end-stage renal disease
- Grey platelet syndrome misdiagnosed as ITP
- Hereditary thrombocytopenia associated with a mutation in the MYH-9 gene. Report of one case
- Hereditary thrombocytopenia with familial novel mutation in MYH9 gene: A familial case report
- Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing
- Identification of a novel MYH9-related disease-associated mutation with multiple faintly staining Döhle-like bodies
- Indication of total parathyroidectomy for an Epstein syndrome patient with end-stage renal disease
- Individualized Bleeding Risk Assessment through Thromboelastography: A Case Report of May-Hegglin Anomaly in Preterm Twin Neonates
- Isolated thrombocytopenia in childhood: what if it is not immune thrombocytopenia?
- Linking the Landscape of <em>MYH9</em>-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells
- Lower Leg Hyperpigmentation in MYH9-Related Disorder
- Macrothrombocytopenia With Congenital Bilateral Cataracts: A Phenotype of MYH9 Disorder With Exon 24 Indel Mutations
- Macrothrombocytopenia With Döhle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease
- Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease
- Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations
- Management of patients with severe Epstein syndrome: Review of four patients who received living-donor renal transplantation
- Marked Underestimation of Platelet Count and a Characteristic Platelet Histogram as Clues to MYH9-Related Disorders
- May-Hegglin Anomaly
- May-Hegglin Anomaly
- May-Hegglin Anomaly
- Mean platelet diameter measurements to classify inherited thrombocytopenias
- Megakaryocyte migration defects due to nonmuscle myosin IIA mutations underlie thrombocytopenia in MYH9-related disease
- Molecular diagnosis of a family with May-Hegglin anomaly
- MYH9 Associated nephropathy
- MYH9 Disorders (May-Hegglin Anomaly) the Role of the Blood Smear
- MYH9 gene mutations associated with bleeding
- MYH9-related Disease Caused by an R1165C Mutation in a Child With Previous Diagnosis of Immune Thrombocytopenic Purpura
- MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane
- MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy
- MYH9-related disorder with sole presentation of end-stage kidney disease and long-term, recurrence-free living after living donor renal transplantation: a case report
- MYH9-related disorder, a probable May-Hegglin anomaly case series: A tertiary care experience
- MYH9-related disorders display heterogeneous kidney involvement and outcome
- MYH9-related disorders: a rare cause of neonatal thrombocytopaenia
- MYH9-Related Thrombocytopenia
- MYH9: Structure, functions and role of non-muscle myosin IIA in human disease
- Myosin Heavy Chain 9 (MYH9)-Related Congenital Macrothrombocytopenia
- Nephroquiz 10: A 16-Year-Old Patient With Thrombocytopenia and Kidney Failure
- New Alert Message Settings for the XN-series Automated Hematology Analyzer Are Useful for Avoiding Falsely High WBC Counts and to Detect Specimens with Giant Platelets
- Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants
- Obstetrical bleeding in women with MYH9-related disease-A systematic review
- Patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia for 50 years
- Pay attention to neutrophil inclusions in pediatric patients with thrombocytopenia
- Post-Kidney Transplant Brief Psychosis in a Patient With MYH9-Related Disease: A Case Report
- Rare inherited kidney diseases: an evolving field in Nephrology
- Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly
- Renal diseases related to MYH9 disorders
- Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation
- Role for formin-like 1-dependent acto-myosin assembly in lipid droplet dynamics and lipid storage
- Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia
- Safety of clozapine in patient with treatment resistant schizophrenia & asymptomatic constitutional macrothrombocytopenia (Harris syndrome)
- Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients
- Spontaneous and recurrent subdural haematoma in a patient with May-Hegglin anomaly
- Subarachnoid Hemorrhage Revealing Moyamoya Syndrome in a Patient With May-Hegglin Anomaly
- Successful administration of eltrombopag in preparation for peritoneal dialysis catheter placement in a girl with MYH9-related disease
- Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up
- Successful Eltrombopag Therapy in a Child with MYH9-Related Inherited Thrombocytopenia
- Successful hematopoietic stem cell transplantation in MYH9-related congenital thrombocytopenia
- Successful living-related kidney transplantation in MYH9-related disorder with macrothrombocytopenia: lessons for the clinical nephrologist
- The curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin anomaly: a case report and short literature review
- The May-Hegglin anomaly: a rare cause of a common complaint
- The surgical management of a patient with chronic renal failure and macrothrombocytopenia related to the MYH9 gene mutation: A case report
- The use of pan-retinal photocoagulation to treat recurrent vitreous haemorrhage with neovascularisation in the context of Epstein syndrome: an MYH9-related disorder
- Transforming growth factor β activated kinase 1: a potential therapeutic target for rheumatic diseases
- Two Cases of the <em>MYH9</em> Disorder Fechtner Syndrome Diagnosed from Observation of Peripheral Blood Cells before End-Stage Renal Failure
- Two Cases of the MYH9 Disorder Fechtner Syndrome Diagnosed from Observation of Peripheral Blood Cells before End-Stage Renal Failure
- Umbilical cord blood transplantation for MYH9-related disorders
- Unveiling the hidden clues: Dohle body-like inclusions as morphological markers for MYH9-related disorders: A case report