WWW


Onderstaande betreft een rondleiding langs diverse websites, waaronder:

  • Recente PubMed publicaties over hand kenmerken
  • De TOP 50 van de meest bezochte websites
  • Op zoek naar een GRATIS on-line handanalyse?
  • Fenomenale handanalyse websites!!!
  • Interessante medische websites!
  • Enkele websites met namen van professionele handanalisten
  • En tenslotte enkele Handanalyse partner websites








    Pyknodysostosis: visceral manifestations and simian crease.

    Singh AR, Kaur A, Anand NK, Singh JR.

    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

    Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease. Mutations in this gene affect the metabolism of skeletal system. This causes problems in bone resorption and remodelling and craniofacial abnormalities. In this article we report a case of 12 year old female from Punjab with pyknodysostosis having hepatosplenomegaly and simian crease.

    Source:
    Indian J Pediatr. 2004 May;71(5):453-5.

    PMID: 15163881 [PubMed - in process]









  • Counter