An X-linked microcephaly syndrome caused by disruptions of CASK implicates the CASK-TBR1-RELN pathway in human brain development

作者：Bailey Kathleen A^*; Aldinger Kimbery A

来源：Clinical Genetics, 2009, 75(5): 424-425.

DOI：10.1111/j.1399-0004.2009.01186.x

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.Najm J et al.. (2008)Nature Genetics 40: 1065-1067.

• 出版日期2009-5