Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test
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Microcephaly primary hereditary (MCPH) is a rare neurodevelopmental disorder characterized by a reduced head circumference and variable severity of intellectual disability, typically inherited in an autosomal recessive pattern. Mutations in over 32 genes have ... ...
