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Quoted phrase not found in phrase index: "Microcephaly 4, primary, autosomal recessive"
Page 1
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. 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.
BACKGROUND: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. ...RESULTS: All patients displayed neurosensory …
BACKGROUND: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders main …
Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL.
Kitagawa D, Kohlmaier G, Keller D, Strnad P, Balestra FR, Flückiger I, Gönczy P. Kitagawa D, et al. J Cell Sci. 2011 Nov 15;124(Pt 22):3884-93. doi: 10.1242/jcs.089888. Epub 2011 Nov 18. J Cell Sci. 2011. PMID: 22100914
Patients with MCPH (autosomal recessive primary microcephaly) exhibit impaired brain development, presumably due to the compromised function of neuronal progenitors. Seven MCPH loci have been identified, including one that encodes centrosome protein …
Patients with MCPH (autosomal recessive primary microcephaly) exhibit impaired brain development, presumably due …