Pasutto, Francesca

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., et al. (2007) · The American Journal of Human Genetics

Congenital limb and hand anomaliesOcular Disorders and Treatments

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Novel STRA6 null mutations in the original family described with Matthew–Wood syndrome

Pasutto, F., Flinter, F., Rauch, A., & Reis, A. (2018) · American Journal of Medical Genetics Part A

Genomics and Rare DiseasesMetabolism and Genetic Disorders

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