Weissenbacher-zweymuller Syndrome

Weissenbacher-Zweymuller syndrome is a genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α2 strand of collagen type XI. It causes facial abnormalities, skeletal malformation and occasionally neural tube defects; the skeletal disfigurements resolve to a degree in the course of development. Mutations in different parts of the gene may lead to deafness or Strickler syndrome type III (eye problems: myopia, retinal detachment and skeletal abnormalities).

Refernces

  • Weissenbacher G, Zweymuller E. Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie. Mschr Kinderheilk 1964;112:315-7. PMID 14234962.

External link

  • and

 

<< PreviousWord BrowserNext >>
complete fermi dirac integral
incomplete fermi dirac integral
desvres
divion
virulence
carnac island
polygamma function
digamma function
transport function
robert crippen
edward stanley, 13th earl of derby
synchrotron function
slobozia
hurwitz zeta function
eta function
coil spring
san marino, san marino
stefan banic
open university of hong kong
operation ore
operation pin
codex leicester
jim reeves
lisa snowdon
demographics of quebec
trobriand islands
amundsen (band)
john meriwether
toltec (castaneda)
alexa toolbar
fort zeelandia
operation slipper
ralph myerz and the jack herren band
indoor cycling
mahmoud tawallbe
elisha collier
dvd r
functor category
negative (photography)
morera's theorem
simon lake
gene kranz
john thomas (harpist)
national anthem of the republic of azerbaijan