• A Homozygous Deletion of Exon 5 of <em>KYNU</em> Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome
• A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome
• A male infant with the Catel-Manzke syndrome and dislocatable knees
• A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum
• A patient with hyperphalangism: the milder phenotype of Catel-Manzke syndrome
• Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature
• Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
• Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome?
• Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect
• Catel-Manzke syndrome
• Catel-Manzke syndrome without cleft palate: a case report
• Catel-Manzke syndrome without Manzke dysostosis
• Catel-Manzke syndrome: a case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome?
• Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance
• Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in <em>TGDS</em>
• Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS
• Catel-Manzke syndrome: two new patients and a critical review of the literature
• Cystic hygroma and hirsutism in a child with Catel-Manzke syndrome
• Desbuquois syndrome: clinical, radiographic, and morphologic characterization
• Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation
• Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate
• Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome
• Hyperphalangia in Pierre-Robin syndrome
• Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature
• IMPAD1 mutations in two Catel-Manzke like patients
• Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome?
• Isolation and molecular identification of nematode surface mutants with resistance to bacterial pathogens
• Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus
• Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome
• Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome)
• Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings
• Simplification of intradermal skin testing in Hymenoptera venom allergic children
• Strategies to improve the performance of rare variant association studies by optimizing the selection of controls
• TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy
• The Catel-Manzke syndrome in a female infant
• The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions