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Am J Med Genet C Semin Med Genet
November 2010
Medical Genetics Institute at Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilkd 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus, and hypotonia. Risheg et al. [Risheg et al.
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