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Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

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Published in:JIMD Reports
Format: Online Article RSS Article
Published: 2026
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container_title JIMD Reports
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discipline_display Internal Medicine
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journal_source_facet JIMD Reports
last_indexed 2026-06-20T21:42:46.854Z
publishDate 2026
publishDateSort 2026
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spellingShingle Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
Internal Medicine
General
Internal Medicine
sub_discipline_display General
sub_discipline_facet General
subject_display Internal Medicine
General
Internal Medicine
subject_facet Internal Medicine
General
Internal Medicine
title Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
title_alt Ampliación de la correlación genotipo-fenotipo de MRPS34: Dos nuevos casos y una revisión de cohortes
Élargissement de la corrélation génotype-phénotype MRPS34 : Deux nouveaux cas et une revue de cohorte
Expandindo a Correlação Genótipo-Fenótipo de MRPS34: Dois Novos Casos e uma Revisão de Coorte
title_auth Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
title_es_txt Ampliación de la correlación genotipo-fenotipo de MRPS34: Dos nuevos casos y una revisión de cohortes
title_fr_txt Élargissement de la corrélation génotype-phénotype MRPS34 : Deux nouveaux cas et une revue de cohorte
title_full Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
title_fullStr Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
title_full_unstemmed Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
title_pt_txt Expandindo a Correlação Genótipo-Fenótipo de MRPS34: Dois Novos Casos e uma Revisão de Coorte
title_short Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
title_sort expanding the mrps34 genotype–phenotype correlation: two novel cases and a cohort review
topic Internal Medicine
General
Internal Medicine
url https://onlinelibrary.wiley.com/doi/10.1002/jmd2.70089?af=R