Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
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R. Stevenson | M. Dalakas | I. Nonaka | I. Nishino | S. Iannaccone | Yoshihiko Yamada | E. Arikawa-Hirasawa | J. Devaney | C. Francomano | J. Hassell | P. Govindraj | J. Spranger | A. H. Le | N. C. Ho | N. Ho