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

Abstract 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 de...

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Autores principales: Atif Towheed, Christian L. Hietanen, Vasudeva G. Kamath, Larry N. Singh, Angela Ho, Kristin Engelstad, Kayla Cornett, Jacqueline Montes, Darryl De Vivo
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
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Acceso en línea:https://doaj.org/article/76ec6d54b97e41acb9c8cb990d4765fa
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