Objective To review the clinical and molecular genetic characteristics of 16 patients
presenting a suspected diagnosis of Kabuki syndrome (KS) in the first year of life, to …

Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies,
intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies …

The liver constitutes of two main components: the parenchyma and the biliary system.
Diseases affecting mainly the biliary system are described either as cholangiopathy or …

We report our experience with a case of Kabuki syndrome complicated by multiple
anomalies requiring surgery. The patient was a male infant born at 41 weeks 5 days …

Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by
distinctive facial features, global developmental delay, intellectual disability, and …

Kabuki syndrome (KS), a rare and relatively new syndrome, has been historically associated
with classical facial dysmorphisms, heart and endocrine abnormalities, but only few cases of …

Kabuki sendromu (Kabuki make-up sendromu, Niikawa-Kuroki sendromu) çoklu doğumsal
anomali/mental gerilik sendromudur. Epilepsi, prematür telarş ve prematür pubarşı olan …