Associated Papers
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient.
Perrone E et al.
Molecular Syndromology, 2018
Long term follow-up of four patients with Keutel syndrome.
Khosroshahi HE et al.
American Journal of Medical Genetics. Part A, 2014
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Weaver KN et al.
American Journal of Medical Genetics. Part A, 2014
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