Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting
enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel …

Background KohlschüttereTönz syndrome (KTS), also called amelo‐cerebro‐hypohidrotic
syndrome, is a very rare genetic condition, described for the first time by Kohlschutter, which …

Kohlschütter–Tönz syndrome (KTS) is a rare, autosomal recessive syndrome characterized
by a triad of epilepsy, amelogenesis imperfecta and severe global developmental delay. It …

Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by
severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta …

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting
enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel …

Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive
inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz …

Purpose This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China
and reviewed the literature of the reported cases. Methods This patient was registered at the …

Results Trio exome sequencing revealed a novel, homozygous, likely pathogenic variant, c.
646-2_649del, in exon 9 of the ROGDI gene (NM_024589. 3) in the first child. Sanger …

Kohlschutter-Tonz syndrome [KTS: OMIM# 226750] is an autosomal recessive disorder
characterized by developmental delay with varying severity, early onset refractory epilepsy …

Corrigendum: Calcium interactions in amelogenin-derived peptide assembly Page 107
Correction TYPE PUBLISHED 04 April 2023 DOI 10.3389/fphys. 2023.1178589 OPEN ACCESS …