CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation
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DOI: 10.1097/md.0000000000026093
Abstract: Abstract Rationale: Mutations of connector enhancer of kinase suppressor of Ras-2 (CNKSR2) gene were identified as the cause of Houge type of X-linked syndromic mental retardation. The mutations of CNKSR2 gene are rare, we reporta… read more here.
Keywords: syndromic mental; linked syndromic; cnksr2 gene; gene ... See more keywords
Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2
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DOI: 10.1111/cge.13580
Abstract: To the Editor: This letter is intended to directly respond to and complement that submitted by Harmsen et al in which they describe a male with mental retardation, X-linked, syndromic, Bain-type (MRXSB) due to a… read more here.
Keywords: age; two additional; mental retardation; linked syndromic ... See more keywords