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Item type:Publication, Severe
<scp>SOPH</scp>
syndrome due to a novel
<i>NBAS</i>
mutation in a
<scp>27‐year‐old</scp>
woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades(2020) ;Yves Lacassie ;Britt Johnson ;Guillermo Lay‐Son ;Rita QuintanaAndrew King12Scopus© Citations 13