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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family

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

The adult phenotype in Costello syndrome

Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS)

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