共 50 条
- [21] A Novel Pathogenic Variant in NDP Gene With Incomplete Penetrance Manifests as X-Linked Familial Exudative Vitreoretinopathy OPHTHALMIC SURGERY LASERS & IMAGING RETINA, 2019, 50 (02): : 120 - 124
- [22] Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 84 (02): : 87 - 89
- [24] A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (05): : 1650 - 1653
- [26] The Arg121Trp variant in PAX4 gene is associated with beta-cell dysfunction in Japanese subjects with type 2 diabetes mellitus METABOLISM-CLINICAL AND EXPERIMENTAL, 2006, 55 (02): : 213 - 216
- [27] X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7 MOLECULAR VISION, 2007, 13 (252-55): : 2233 - 2241
- [30] X-linked adrenal hypoplasia congenita: Novel missense mutation of DAX-1 gene MEDICINA CLINICA, 2019, 152 (06): : 242 - 243