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Kif7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes
(Nature Publishing Group, 2011)
KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ...
Molecular Screening Of Adamtsl2 Gene In 33 Patients Reveals The Genetic Heterogeneity Of Geleophysic Dysplasia
(B M J Publishing Group, 2011)
Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac ...