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New Lethal Skeletal Dysplasia with Dandy-Walker Malformation, Congenital Heart Defects, Abnormal Thumbs, Hypoplastic Genitalia, and Distinctive Facies
We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3097391/ https://ncbi.nlm.nih.gov/pubmed/20602491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33488 |
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