Disease: Lethal congenital contracture syndrome 2
- <em>CNTNAP1</em> Mutations and Their Clinical Presentations: New Case Report and Systematic Review
- A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malf
- A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss
- A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2
- Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis
- Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
- Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia
- An additional case of pachygyria, joint contractures and facial abnormalities
- Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7
- Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals
- Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report
- Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis
- Disorders of nucleotide excision repair
- Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
- Early and lethal neurodegeneration with myasthenic and myopathic features: A new <em>ALG14</em>-CDG
- Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG
- ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2
- Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
- Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
- Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita
- FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
- Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway
- Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway
- Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5
- Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
- NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations
- New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
- Novel variants of <em>NEK9</em> associated with neonatal arthrogryposis: Two case reports and a literature review
- Phenotype variability and histopathological findings in patients with a novel DNM2 mutation
- Pontocerebellar hypoplasia associated with respiratory-chain defects
- Premature aging syndromes: From patients to mechanism
- Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants
- Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome
- Restrictive dermopathy: report and review
- Restrictive dermopathy. Report of two affected siblings and a review of the literature
- Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: a case for "lumping"
- Severe spinal muscular atrophy variant associated with congenital bone fractures
- Spectrum of features in pterygium syndrome
- Syndrome of mental retardation and distal arthrogryposis in sibs
- Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome
- Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature