Associated Papers
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N et al.
Journal of Medical Genetics, 2013
Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach.
Rajith B et al.
Applied Biochemistry and Biotechnology, 2013
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.
Jarzabek K et al.
Advances in Medical Sciences, 2012
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
Dodé C et al.
Human Mutation, 2007
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