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

published in: Nature Genetics

date of publication: 2017-01-09

language: English

main subject: Structural maintenance of chromosomes flexible hinge domain containing 1, nose development, muscular dystrophy, BOSMA Arhinia Microphthalmia Syndrome

Cites articles 80

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Title

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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

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