Disease: Multiple pterygium syndrome lethal type
- A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia
- A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
- A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family
- A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection
- Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene
- Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses
- Autosomal dominant mental retardation type 5 caused by <em>SYNGAP1</em> gene mutations: a report of 8 cases and literature review
- Autosomal dominant Parkinson's disease caused by the recently identified LRRK2 N1437D mutation in a Chinese family: Clinical features, imaging findings, and functional impact
- Autosomal dominant Ullrich congenital muscular dystrophy due to a <em>de novo</em> mutation in <em>COL6A3</em> gene. A case report
- Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis
- Cardiac anomalies associated with Escobar syndrome: A case report and a review of the literature
- Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the <em>CHRND</em> gene
- Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene
- Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis
- Case Report: Novel compound heterozygous variants in <em>CHRNA1</em> gene leading to lethal multiple pterygium syndrome: A case report
- Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report
- Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer's disease
- Clinical and Genetic Features of <em>NR2E3</em>-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review
- Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
- Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome
- Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions
- Diversity of neuromuscular pathology in lethal multiple pterygium syndrome
- Early Depressive Symptoms Predict Faster Dementia Progression in Autosomal-Dominant Alzheimer's Disease
- Effect of apolipoprotein genotype and educational attainment on cognitive function in autosomal dominant Alzheimer's disease
- Escobar Syndrome with Monodactyly: A Rare Case Report
- FMRI Complexity Correlates with Tau-PET and Cognitive Decline in Late-Onset and Autosomal Dominant Alzheimer's Disease
- Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A
- Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
- Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
- Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia
- Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)
- Lethal multiple pterygium syndrome
- Lethal multiple pterygium syndrome in a newborn, a case report
- Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies
- Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita
- Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture
- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
- NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease
- Novel Molecular Genetic Etiology of Asymmetric Hearing Loss: Autosomal-Dominant LMX1A Variants
- Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Plasma inflammation for predicting phenotypic conversion and clinical progression of autosomal dominant frontotemporal lobar degeneration
- Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke
- Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review
- Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report
- Proximal Dominant Hereditary Motor and Sensory Neuropathy with <em>TFG</em> Mutation: First Case Report from India
- Pterygium Syndrome
- Pterygium Syndrome
- Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations
- Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α1<sub>2</sub>β1δε
- Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α1<sub>2</sub>β1δε
- Rescue of autosomal dominant hearing loss by in vivo delivery of mini dCas13X-derived RNA base editor
- Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man
- Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature
- Sex differences in blood biomarkers and cognitive performance in individuals with autosomal dominant Alzheimer's disease
- SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy
- Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature
- Tau accumulation in autosomal dominant Alzheimer's disease: a longitudinal [<sup>18</sup>F]flortaucipir study
- The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children
- The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function
- Tracking reactive astrogliosis in autosomal dominant and sporadic Alzheimer's disease with multi-modal PET and plasma GFAP
- Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations