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pro vyhledávání: '"Janet Linnea Lynch"'
Autor:
M. Reza Sailani, Safoura Mazrouei, Anil Narasimha, Jonathan A. Bernstein, Amin Zia, Janet Linnea Lynch, Omid Aryani, Michael Snyder, Inlora Jingga, James Chappell
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an u
Autor:
M. Reza Sailani, Baoxu Pang, Janet Linnea Lynch, Juliane Winkelmann, Shannon Rego, Michael Snyder, Jonathan A. Bernstein, Joshua J. Gruber, Majid Hoseinzadeh, Mahdiyeh Behnam, Shinichi Takahashi, Safoura Mazroui, Mansoor Salehi, Jafar Nasiri, Fereshteh Jahanbani, Maryam Sedghi, Amin Zia, Semira Amirkiai, Daniel D. Lam
Publikováno v:
Human Genetics
Alopecia with mental retardation syndrome (APMR) is a very rare autosomal recessive condition that is associated with total or partial absence of hair from the scalp and other parts of the body as well as variable intellectual disability. Here we pre