Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Kazuaki Matsumoto Author

jumbleworks@gmail.com

Subjects of specialization
Wolf-Hirschhorn syndrome

Affiliation
Department of Pediatrics, JA Toride Medical Center, Ibaraki, Japan

Biography

Kazuaki Matsumoto belongs to Department of Pediatrics intrested in the field Mediterranean fever; Wolf-Hirschhorn syndrome; Congenital heart disease; Autoinflammatory disorder from JA Toride Medical Center, Ibaraki, Japan

Publications

Case Report Open Access

A Case of Wolf-Hirschhorn Syndrome and Familial Mediterranean Fever

Author(s):

Kazuaki Matsumoto* and Masayasu Ohta

Wolf-Hirschhorn syndrome is a genetic syndrome that includes growth failure, mental retardation, congenital heart disease, typical facial features and epilepsy. This syndrome is associated with a microdeletion of the short arm of chromosome 4. Familial Mediterranean fever is a hereditary autoinflammatory disorder characterized by fever and serosal inflammation that affects abdomen, chest and joints. This disorder is associated with mutations in MEFV located on chromoso... view more»

DOI: 10.4172/2327-5790.1000133

Abstract HTML PDF

Google Scholars / Researchers Sites

Explore SciTechnol

GET THE APP