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A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma.
J Cancer Res Clin Oncol
April 2016
Klinik für Innere Medizin II, Abteilung Hämatologie und internistische Onkologie, Universitätsklinikum Jena, Erlanger Allee 101, 07747, Jena, Germany.
Purpose: Brooke-Spiegler syndrome (BSS, familial cylindromatosis) is a rare hereditary disease characterized by multiple tumors of the skin appendages predominantly located in the head and neck region, such as cylindromas, trichoepitheliomas, or spiradenomas. It is caused by an autosomal dominant mutation in the CYLD gene, mapped on chromosome 16q12-13. Association with secondary malignant neoplasms has been reported.
View Article and Find Full Text PDFEncephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?
Am J Med Genet A
May 2014
Department of Ginecology and Obstetrics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brazil.
The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described separately in certain recurrent conditions such as VACTERL association, oculo-auriculo-vertebral spectrum and Edwards syndrome (trisomy 18). DK-phocomelia is a rare syndrome characterized by both findings.
View Article and Find Full Text PDFFroster syndrome: two further siblings with bilateral diaphragmatic hernia, asymmetric limb reduction defects, and exomphalos.
Clin Dysmorphol
April 2013
North West Thames Regional Genetics Service (Kennedy Galton Centre), North West London Hospitals NHS Trust Department of Obstetrics and Gynaecology, Luton and Dunstable NHS Trust Paediatric and Perinatal Pathology, The Royal London Hospital, UK.
The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.
Am J Med Genet A
January 2011
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.
Thrombocytopenia was first reported in Cornelia de Lange syndrome (CdLS) by Froster in 1993. Despite early reports, thrombocytopenia has been rarely reported in this disorder. We performed a retrospective analysis of a large cohort of patients with CdLS.
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