Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB - Concepedia

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Publication | Open Access

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

DOI Full Paper Access

106

Citations

21

References

2015

Year

Frank Rauch, Somayyeh Fahiminiya, Jacek Majewski, Jian Carrot‐Zhang, Sergei P. Boudko, Francis H. Glorieux, John S. Mort, Hans‐Peter Bächinger, Pierre Moffatt

The American Journal of Human Genetics

Cole-carpenter Syndrome IsMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathologyMolecular GeneticsDisease Gene IdentificationMedicineHeterozygous Missense MutationClinical Genetics

References

	Year	Citations

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