PMC Links for OMIM (Select 255800) - PMC

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Items: 3

Select item 10158251.

Schwartz-Jampel syndrome (chondrodystrophic myotonia).

D Viljoen, P Beighton

J Med Genet. 1992 Jan; 29(1): 58–62. doi: 10.1136/jmg.29.1.58

PMCID:: PMC1015825

Summary Page Browse PDF–1.8M

Select item 4929842.

Schwartz-Jampel syndrome in two daughters of first cousins.

L Pavone, F Mollica, A Grasso, A Cao, F Gullotta

J Neurol Neurosurg Psychiatry. 1978 Feb; 41(2): 161–169. doi: 10.1136/jnnp.41.2.161

PMCID:: PMC492984

Summary Page Browse PDF–2.6M

Select item 4476133.

Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia

Eri Arikawa-Hirasawa, Alexander H. Le, Ichizo Nishino, Ikuya Nonaka, Nicola C. Ho, Clair A. Francomano, Prasanthi Govindraj, John R. Hassell, Joseph M. Devaney, Jürgen Spranger, Roger E. Stevenson, Susan Iannaccone, Marinos C. Dalakas, Yoshihiko Yamada

Am J Hum Genet. 2002 May; 70(5): 1368–1375. Published online 2002 Apr 8. doi: 10.1086/340390