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...

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Detalles Bibliográficos
Autores principales: Gupta, Priyanka, Anne, Rajendra Prasad, Deshabhotla, Sai Kiran, Nerakh, Gayatri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
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

Internet

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

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