• "C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment
• "Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion
• A 3H-labelled trisaccharide from heparin as substrate for acetyl-CoA: 2-amino-2-deoxy-alpha-D-glucoside N-acetyltransferase
• A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome
• A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
• A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes
• A multi-omic brain gut microbiome signature differs between IBS subjects with different bowel habits
• Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks
• Adverse events in trials of licensed drugs for irritable bowel syndrome with constipation or diarrhea: Systematic review and meta-analysis
• Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes?
• Ara-C syndrome during low-dose continuous infusion therapy
• Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C
• Bixler's syndrome or the H.M.C. syndrome (apropos of a new case)
• Bohring-opitz syndrome - A case of a rare genetic disorder
• Brachydactyly C, short stature, and hip dysplasia
• C syndrome
• C syndrome and omphalocele: another example
• C syndrome with apparently normal development
• Cardiac arrest secondary to long QT(C )in a child with propionic acidemia
• Case report: Exploring under the tip of the iceberg: A case series of "self-limiting" multisystem inflammatory syndrome in children
• Clinical and genetic analysis of two rare male patients with Rett syndrome
• Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
• Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy
• COVID-19 diversity: A case of multisystem inflammatory syndrome in children masquerading as juvenile systemic lupus erythematosus
• Cytarabine-induced pericarditis
• Differences in the nonreducing ends of heparan sulfates excreted by patients with mucopolysaccharidoses revealed by bacterial heparitinases: a new tool for structural studies and differential diagnosis of Sanfilippo's and Hunter's syndromes
• EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome
• Familial type C syndrome of insulin resistance and short stature with possible autosomal dominant transmission
• FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype
• Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
• Further delineation of the C (trigonocephaly) syndrome
• Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
• Genes associated with low serum high-density lipoprotein cholesterol
• Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
• Interdisciplinary rehabilitation of a patient with Opitz C-syndrome and extensive craniofacial malformation
• Involvement of <em>ADGRV1</em> Gene in Familial Forms of Genetic Generalized Epilepsy
• Managing occupational risks for hepatitis C transmission in the health care setting
• Mechanisms of Immune Dysregulation in COVID-19 Are Different From SARS and MERS: A Perspective in Context of Kawasaki Disease and MIS-C
• MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity
• Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: identification of a novel mutation in MSH2 gene
• Mortality and pathological findings in C (Opitz trigonocephaly) syndrome
• Multi-omics profiles of the intestinal microbiome in irritable bowel syndrome and its bowel habit subtypes
• Multiple peg-shaped teeth associated with acrocephalosyndactyly. A variant of the Saethre-Chotzen syndrome? A clinical case
• Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online
• Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome
• Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
• Neurogenic hypernatremia with adipsia and cerebral malformations in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate syndrome
• Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development
• Observations of fibrin split product levels in the D.I.C. syndrome and other disease states
• Opitz C syndrome and pseudohypoaldosteronism
• Opitz C trigonocephaly syndrome and midline brain anomalies
• Opitz trigonocephaly C syndrome associated with hearing loss
• Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)
• Opitz trigonocephaly syndrome
• Opitz trigonocephaly syndrome and terminal transverse limb reduction defects
• Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report
• Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly
• Opitz-trigonocephaly syndrome--a characteristic dysmorphia-retardation syndrome of unclear origin
• Opitz' trigonocephaly syndrome
• Optiz trigonocephaly syndrome: report of two cases
• Paracoagulation tests in laboratory verification of intravascular coagulation. Comparative clinical evaluation of the SDPS test and of the ethanol test with serial dilution (SD ethanol test)
• Partial trisomy 13 with features similar to C syndrome
• Persistent fetal circulation: an evolving clinical and radiographic concept of pulmonary hypertension of the newborn
• Probable Opitz trigonocephaly C syndrome with medulloblastoma
• Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome
• Recent advances in trigonocephaly
• Renal Involvement in Multisystem Inflammatory Syndrome in Children: Not Only Acute Kidney Injury
• Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome
• Rudiger (E. E. C.) syndrome: report of a case associated with atopic dermatitis (author's transl)
• Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals
• Sanfilippo type C syndrome in two sisters
• Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes
• Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
• Severe end of Opitz trigonocephaly C syndrome
• Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
• Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection
• The C syndrome
• The cytosine arabinoside (Ara-C) syndrome
• The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity
• The E.E.C. syndrome: an indication for early prosthesis
• The first case of the Sanfilippo type C syndrome in Scandinavia
• The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation
• The Opitz trigonocephaly syndrome. A case report
• The tetraspanin CD63/lamp3 cycles between endocytic and secretory compartments in human endothelial cells
• Treacher-Collin's syndrome and translaryngeal guided intubation--case report
• Trigonocephaly and the Opitz C syndrome
• Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome
• Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins
• Zinsser-Engman-Cole syndrome (dyskeratosis congenita) with severe sicca syndrome, panuveitis and corneal perforation--a case report