Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression

Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral disturbances. Biopsied muscle studies demonstrate...

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Detalles Bibliográficos
Autores principales: Towheed, Atif, Hietanen, Christian L., Kamath, Vasudeva G., Singh, Larry N., Ho, Angela, Engelstad, Kristin, Cornett, Kayla, Montes, Jacqueline, De Vivo, Darryl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607452/
https://www.ncbi.nlm.nih.gov/pubmed/34612606
http://dx.doi.org/10.1002/acn3.51464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607452/
https://www.ncbi.nlm.nih.gov/pubmed/34612606
http://dx.doi.org/10.1002/acn3.51464

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