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- [1] A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations INTERNATIONAL JOURNAL OF GENERAL MEDICINE, 2021, 14 : 1873 - 1880
- [3] Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2017, 30 (01): : 117 - 121
- [4] Identification of Pathological FBN1 Variants Is Not Straightforward CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2018, 11 (06):
- [7] Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants Journal of Human Genetics, 2015, 60 : 241 - 252
- [9] FBN1 Coding Variants and Nonsyndromic Aortic Disease CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2019, 12 (06):
- [10] Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 (05): : 342 - 348