A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.
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| Title: | A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. |
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| Authors: | Paganini, I.1, Sestini, R.1, Capone, G.L.1, Putignano, A.L.1, Contini, E.2, Giotti, I.2, Gensini, F.1, Marozza, A.1,3, Barilaro, A.4, Porfirio, B.1, Papi, L.1 |
| Source: | Clinical Genetics. Dec2017, Vol. 92 Issue 6, p664-668. 6p. 3 Diagrams. |
| Database: | Academic Search Ultimate |
| ISSN: | 00099163 |
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| DOI: | 10.1111/cge.13085 |
