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An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy
We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation. On examination, there was facial dysmorphism, hypotonia, encephalopathy, joint laxity and muscle hypertrophy in addition to left foot...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8680898/ https://www.ncbi.nlm.nih.gov/pubmed/35002136 http://dx.doi.org/10.4103/aian.AIAN_1108_20 |