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Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndromeTanaka, Hajime; Ito, Junichi; Cho, Kazuhiko; Mikawa, Makoto · 1993
Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)Ohnuma, Kei; Imaizumi, Kiyoshi; Masuno, Mitsuo; Nakamura, Mihoko; Kuroki, Yoshikazu · American Journal of Medical Genetics · 1997