共 50 条
- [42] Novel mutation in the Δ-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 110 (02): : 103 - 108
- [43] Novel mutation in the Δ7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 103 (04): : 344 - 347
- [44] Analysis of ATG mutated 7-dehydrocholesterol Δ7-reductase in Smith-Lemli-Opitz Syndrome ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, 2012, 243
- [48] FEMALE EXTERNAL GENITALIA AND MULLERIAN DUCT DERIVATIVES IN A 46,XY INFANT WITH THE SMITH-LEMLI-OPITZ SYNDROME AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 28 (03): : 723 - 731
- [49] Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness JOURNAL OF EXPERIMENTAL MEDICINE, 2006, 203 (05): : 1161 - 1171
- [50] Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (03): : 1157 - 1159