7/15 Within the last 10 years, it has been found that the MCPH1 allele is found at much lower levels in mice than in primates and humans, whose allele levels all directly correspond to the degree of neuronal density amongst those species https://t.co/Dz6jE
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5/13 These mutations have been reported in consanguineous lineages, and occur in the form of: ❌gross scale exon deletions ❌nonsense mutations ❌single base pair insertions/deletions ❌splice mutations https://t.co/Mv335WK6w9 https://t.co/CjM3Jwhk2A
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4/13 ❗️To date 12 homozygous mutations of the MCPH1 gene contribute to autosomal recessive primary #microcephaly which results in decreased cranial capacity, developmental delay and intellectual disability❗️ https://t.co/uH37hZjrOA https://t.co/NqBcooyYe
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MCPH1: a window into brain development and evolution. http://t.co/Ul2nqOQX1z