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Edwards, Matthew

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A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family 133 121 0
Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS) 304 256 0
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature 137 125 0
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA 13 12 0
The adult phenotype in Costello syndrome 179 165 0
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Edwards, Matthew

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