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- [33] Previously undeseribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 117A (02): : 112 - 115
- [35] INTERFAMILIAL AND INTRAFAMILIAL VARIABILITY OF CLINICAL EXPRESSION IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1994, 5 (03): : 653 - 653