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Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity |
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Titel: |
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity |
Auteur: |
Chorin, Odelia Chowers, Guy Agbariah, Rawan Karklinsky, Shani Barel, Ortal Bar-Joseph, Ifat Reznik-Wolf, Haike Shamash, Jana Pode-Shakked, Ben Jacobson, Jeffrey M. Huna-Baron, Ruth Redler, Yael Tirosh, Irit Vivante, Asaf Raas-Rothschild, Annick |
Verschenen in: |
European journal of medical genetics |
Paginering: |
Jaargang 65 () nr. 1 pagina's p. |
Jaar: |
2022 |
Inhoud: |
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Uitgever: |
Elsevier Masson SAS |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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