Fauth, Christine

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

Antonell, A., Del Campo, M., Magano, L. F., Kaufmann, L., Martínez de la Iglesia, J., Gallastegui, F., Flores, R., Schweigmann, U., Fauth, C., Kotzot, D., et al. (2010) · Journal of Medical Genetics

Williams Syndrome ResearchGenetics and Neurodevelopmental Disorders

Cited by 163

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

FKBP14 ‐related Ehlers‐Danlos syndrome: Expansion of the phenotype to include vascular complications

Murray, M. L., Yang, M., Fauth, C., & Byers, P. H. (2014) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 24