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CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. Nasser H, et al. Among authors: momtchilova m. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3. J Med Genet. 2020. PMID: 32015000 Clinical Trial.
[Kikuchi's disease and ocular manifestation].
Rocher F, Pelosse B, Momtchilova M, Laroche L. Rocher F, et al. Among authors: momtchilova m. J Fr Ophtalmol. 2006 Oct;29(8):932-6. doi: 10.1016/s0181-5512(06)70116-4. J Fr Ophtalmol. 2006. PMID: 17075511 Review. French.
[Möbius syndrome: ocular and clinical manifestations].
Momtchilova M, Pelosse B, Rocher F, Renault F, Laroche L. Momtchilova M, et al. J Fr Ophtalmol. 2007 Feb;30(2):177-82. doi: 10.1016/s0181-5512(07)89570-2. J Fr Ophtalmol. 2007. PMID: 17318102 French.
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