Severe expressive-language delay related to duplication of the Williams-Beuren locus

Article Abstract:

A case description is presented with respect to the Williams-Beuren Syndrome (WBS) locus and it is hypothesized that reciprocal duplications of the WBS interval should occur. Results recommend that specific genes at 7q11.23 are sensitive to dosage alterations that can influence human language and visuospatial capabilities.

Case studies, Genetic aspects, New England, Williams syndrome

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Chronic lung disease after premature birth

Article Abstract:

The need to develop tools for phenotype-specific diagnosis, management, and long-term surveillance studies to better understand the natural history of chronic lung disease, bronchopulmonary dysplasia after premature birth is discussed.

Care and treatment, Diagnosis, Lung diseases, Obstructive, Chronic obstructive lung disease, Premature birth, Bronchopulmonary dysplasia, Disease/Disorder overview

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