Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome

Kara, IS; Oncul, U; Kose, E; Turan, HM; Ceylan, AC; Eminoglu, FT

Kara, IS (通讯作者),Ankara Univ, Dept Pediat Metab, Fac Med, Ankara, Turkey.

MOLECULAR SYNDROMOLOGY, 2022; 13 (3): 240

Abstract

Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystin......

Full Text Link