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Intellectual "disability," autosomal recessive 46
- ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
- ... system and how mutations cause this condition. connexin-46.6 connexin-47 CX46.6 Cx47 gap junction ... NCBI Gene ClinVar Gotoh L, Inoue K, ...
- ... Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive ... doi: 10.2174/138920309789351930. Citation on PubMed Wortmann ...