Concepedia

Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

Michael A. Simpson, Ray C. J. Hsu, Lindsay Keir, Jianjun Hao, G. Sivapalan, Linda M. Ernst, E H Zackai, L.I. Al-Gazali, Georg Hülskamp, Helen Kingston,

The American Journal of Human Genetics · 2007 · 228 citations · 14 references

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Multiple sequence alignment with the Clustal series of programs

Nucleic Acids Research · 2003 · 4.9K citations · Full text

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Nosology and classification of genetic skeletal disorders: 2006 revision

Andrea Superti‐Furga, Sheila Unger · American Journal of Medical Genetics Part A · 2006 · 345 citations · Full text

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FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells

Demet Nalbant, Hyewon Youn, Selim Nalbant et al. · BMC Genomics · 2005 · 154 citations · Full text

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Automated splicing mutation analysis by information theory

Vijay K. Nalla, Peter K. Rogan · Human Mutation · 2005 · 148 citations

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Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.

J Raine, R M Winter, A Davey et al. · Journal of Medical Genetics · 1989 · 122 citations · Full text

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