Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical ins...
Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects
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Cairo: Springer
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English
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Cairo: Springer
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Introduction Mutations in GDAP1 (Ganglioside-induced differentiation-associated protein 1) gene are linked to Charcot-Marie-Tooth disease (CMT), a Heterogenous group of disorders with multiple phenotypes, characterized by peripheral nerve dysfunction that can lead to vocal cord paralysis and diaphragmatic dysfunction. Main body All three affected c...
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Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects
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TN_cdi_proquest_miscellaneous_3153179065
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3153179065
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ISSN
1687-157X
E-ISSN
2090-5920
DOI
10.1186/s43141-023-00568-9
