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A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency
by
Paganini, I.
,
Sestini, R.
,
Capone, G.L.
,
Putignano, A.L.
,
Contini, E.
,
Giotti, I.
,
Gensini, F.
,
Marozza, A.
,
Barilaro, A.
,
Porfirio, B.
,
Papi, L.
Published in
Clinical genetics
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