| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5589003 | European Journal of Medical Genetics | 2017 | 23 Pages |
Abstract
The multiplex kindred reported herein expands the genotypic and phenotypic spectrum of this recently described clinical syndrome due to autosomal recessive NBAS deficiency.
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Authors
Frederico S. Regateiro, Serkan Belkaya, Nélson Neves, Sandra Ferreira, Paula Silvestre, Sónia Lemos, Margarida Venâncio, Jean-Laurent Casanova, Isabel Gonçalves, Emmanuelle Jouanguy, LuÃsa Diogo,