Toledo type brachyolmia.

Author:

Grain L,Duke O,Thompson G,Davies E G

Publisher

BMJ

Subject

Pediatrics, Perinatology, and Child Health

Reference6 articles.

1. Brachyolmia: radiographic and genetic evidence of heterogeneity;Shohat, M.; Lachman, R.; Gruber, H.E.;Am J Med Genet,1989

2. Brachyolmia: a skeletal dysplasia with an altered mucopolysaccaride excretion;Sewell, A.C.; Wern, C.; Pontz, B.F.;Clin Genet,1991

3. Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccaridsoses: a possible error of chondroitin-6-sulfate synthesis;Toledo, S.P.A.; Mourao, P.A.S.; Lamego, C.;AmJIMed Genet,1978

4. Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia);Paulo, A.S.; Maurao, P.A.S.; Sergio, P.A.;Biochemical Medicine,1973

5. Essai de classification des dysplasies spondylo-epiphysaires;Marateaux, P.; Wiedemann, H.R.; Spranger, J.,1969

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1. B;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

2. A new type of autosomal recessive spondyloepiphyseal dysplasia tarda;American Journal of Medical Genetics;2004

3. Brachyolmia and spinal stenosis;American Journal of Medical Genetics;2003-06-23

4. Short trunk stature, brachydactyly, and platyspondyly in three sibs: A new form of brachyolmia or a new skeletal dysplasia?;American Journal of Medical Genetics Part A;2003-04-18

5. Lexikalischer Teil;Lexikon der Syndrome und Fehlbildungen;2003

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