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Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia |
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Titel: |
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia |
Auteur: |
Moortgat, Stéphanie Lederer, Damien Deprez, Marie Buzatu, Marga Clapuyt, Philippe Boulanger, Sébastien Benoit, Valérie Mary, Sandrine Guichet, Agnès Ziegler, Alban Colin, Estelle Bonneau, Dominique Maystadt, Isabelle |
Verschenen in: |
European journal of medical genetics |
Paginering: |
Jaargang 61 () nr. 8 pagina's 442-450 |
Jaar: |
2018 |
Inhoud: |
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Uitgever: |
Elsevier Masson SAS |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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