SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome - Concepedia

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

DOI Full Paper Access

160

Citations

71

References

2017

Year

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I. Jones, Serkan Erdin, Kathleen A. Williamson, Joe Rainger, Alexei Stortchevoi,

Nature Genetics

Rare DiseasesSmchd1 MutationsMendelian DisorderGenetic DisorderGeneticsPathologyDegenerative DiseaseRare Muscular DystrophyDisease Gene IdentificationCommon DiseasesMedicineIsolated Arhinia

References

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