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 …

Genomics has revolutionized the study of rare diseases. In this review, we overview the
latest technological development, rare disease discoveries, implementation obstacles and …

Background Kohlschütter–Tönz syndrome (KTZS) is a rare autosomal-recessive disease
characterised by epileptic encephalopathy, intellectual disability and amelogenesis …

A precise genetic diagnosis is the single most important step for families with genetic
disorders to enable personalized and preventative medicine. In addition to genetic variants …

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 disorder characterized by
severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta …

Background and Purpose In childhood epilepsy, genetic etiology is increasingly recognized
in recent years with the advent of next generation sequencing. This has broadened the …

Kohlschütter-Tönz syndrome (KTS) manifests as neurological dysfunctions, including early-
onset seizures. Mutations in the citrate transporter SLC13A5 are associated with KTS, yet …

Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by
mutations in the ROGDI gene. This syndrome is characterized by epilepsy, psychomotor …

Objectives This study aimed to investigate the genetic etiology of a family affected by
junctional epidermolysis bullosa (JEB) and generalized enamel hypoplasia, and to explore …