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Primary microcephaly
- ... are the most common cause of autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly ... Vince GH. Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle- ...
- ... Kumar A. Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome ...
- ... deletion, but can include an unusually small head (microcephaly), intellectual disability, ... are thought to cause primary ovarian insufficiency without any other features of BPES. ...
- ... tone (hypotonia), and an unusually small head size (microcephaly). Researchers have not determined why MT-ATP6 mutations ... Santra S, Pallotti F, Girvin ME. Pathogenesis of primary defects in mitochondrial ATP synthesis. Semin Cell Dev ...
