15 results on '"Spondylo epi metaphyseal dysplasia"'
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2. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies
3. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type
4. Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis
5. Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
6. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity
7. Spondylo-epi-metaphyseal dysplasia
8. A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)
9. Dyggve melchior clausen syndrome
10. The skeletal lesion of incest - spondylo epi-metaphyseal dysplasia and mucopolysaccharidosis
11. Spondylo-epi-metaphyseal dysplasia with normal stature
12. Autosomal Recessive. Spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: Delineation of the syndrome
13. Unclassified Osteochondrodystrophies with Extreme Platyspondyly (Report of two cases)
14. The radiological features of a new bone dysplasia
15. Metatropic dysplasia and its variants (analysis of 14 cases)
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