Disease: Osteopathia striata with cranial sclerosis
- A case of osteopathia striata with cranial sclerosis with facial nerve palsies
- A Case Study of a Preadolescent With Osteopathia Striata With Cranial Sclerosis
- A DFT study for improving the photovoltaic performance of organic solar cells by designing symmetric non-fullerene acceptors by quantum chemical modification on pre-existed LC81 molecule
- A knock-in mouse line conditionally expressing the tumor suppressor WTX/AMER1
- A Mosaic Variant in CTNNB1/beta-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis
- A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis
- A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male-male transmission
- A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma
- Clinical vignette: osteopathia striata with cranial sclerosis
- Comments on "osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance"
- Conductive hearing loss in osteopathia striata-cranial sclerosis
- Corrigendum The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort. Am J Med Genet A. 2021;185(12):3793-3803. Doi:10.1002/ajmg.a.62452
- Cranial sclerosis with striated bone disease (osteopathia striata)
- CT of the temporal bone in a patient with osteopathia striata and cranial sclerosis
- Deletion of Exon 1 in <em>AMER1</em> in Osteopathia Striata with Cranial Sclerosis
- Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis
- Dental findings in a child with osteopathia striata with cranial sclerosis (OS-CS): a case report
- Differential diagnosis of a diffuse sclerosis in an identified male skull (early 20th century Coimbra, Portugal): A multimethodological approach for the identification of osteosclerotic dysplasias in skeletonized individuals
- Duodenal web in the syndrome of osteopathia striata with cranial sclerosis
- First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome
- First evidence of vertical paternal transmission of osteopatia striata with cranial sclerosis
- First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2
- Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?
- Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles
- Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings
- Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
- High bone mass due to novel LRP5 and AMER1 mutations
- How to counsel in osteopathia striata with cranial sclerosis
- Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene
- Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?
- Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation
- Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass
- Mosaicism in osteopathia striata with cranial sclerosis
- Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication
- Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS)
- Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis
- Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report
- Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia
- Osseous changes of osteopathia striata associated with cranial sclerosis. An autosomal dominant entity
- Osteomyelitis in an Osteopathia Striata with Cranial Sclerosis Patient
- Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus
- Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance
- Osteopathia striata in the mandible with cranial sclerosis: a case report and review of the literature
- Osteopathia striata with cranial sclerosis
- Osteopathia striata with cranial sclerosis
- Osteopathia Striata with Cranial Sclerosis
- Osteopathia striata with cranial sclerosis
- Osteopathia striata with cranial sclerosis
- Osteopathia striata with cranial sclerosis
- Osteopathia striata with cranial sclerosis
- Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma
- Osteopathia striata with cranial sclerosis affecting three family members
- Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2
- Osteopathia striata with cranial sclerosis and hearing loss
- Osteopathia striata with cranial sclerosis and lumbar spinal stenosis
- Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence?
- Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS
- Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy
- Osteopathia striata with cranial sclerosis owing to WTX gene defect
- Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis
- Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor
- Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl
- Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases
- Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family
- Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance
- Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree
- Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology
- Osteopathia striata with cranial sclerosis. An autosomal dominant entity
- Osteopathia striata with cranial sclerosis. Report of a case and review of the literature
- Osteopathia striata with sclerosis and thickening of the skull
- Osteopathia striata with sclerosis of the skull
- Osteopathia striata--a case report
- Osteopathia striata-cranial sclerosis-megalencephaly
- Osteopathia striata-cranial sclerosis: otorhinolaryngologic clinical presentation and radiologic findings
- Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy
- Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasia
- Osteopathia striata, short stature, cataracts, and microdontia: a new syndrome? A case report
- Prenatal diagnosis of osteopathia striata with cranial sclerosis
- Sequential radiologic findings in osteopathia striata with cranial sclerosis
- Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report
- Severe craniofacial sclerosis with multiple anomalies in a boy and his mother
- Severe malformations in males from families with osteopathia striata with cranial sclerosis
- Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion
- Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children
- Striated osteopathy with cranial sclerosis and macrocephaly in childhood. Report of 2 cases
- Surgically assisted rapid maxillary expansion in two cases of osteopathia striata with cranial sclerosis
- Syndrome of osteopathia striata, macrocephaly, and cranial sclerosis
- The male phenotype in osteopathia striata congenita with cranial sclerosis
- The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort
- The WTX tumor suppressor regulates mesenchymal progenitor cell fate specification
- Tuning the optoelectronic properties of selenophene-diketopyrrolopyrrole-based non-fullerene acceptor to obtain efficient organic solar cells through end-capped modification
- Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis
- Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility
- Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in <em>AMER1</em>
- Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1
- Wilms tumor in patients with osteopathia striata with cranial sclerosis
- Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question
- WTX mutations can occur both early and late in the pathogenesis of Wilms tumour
- WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features
- Zebrafish Wtx is a negative regulator of Wnt signaling but is dispensable for embryonic development and organ homeostasis