Ontology highlight
ABSTRACT:
SUBMITTER: Moon JE
PROVIDER: S-EPMC6007063 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Moon Jung-Eun JE Lee Su-Jeong SJ Ko Cheol Woo CW
BMC medical genetics 20180618 1
<h4>Background</h4>Kabuki syndrome is characterized by distinctive facial features and varying degrees of growth retardation. It leads to malformations in skeletal, urogenital and cardiac structures; moreover, endocrine conditions such as premature thelarche, precocious puberty, growth hormone deficiency, diabetes insipidus, thyroid dysfunction and obesity have been reported. Kabuki syndrome is caused by a heterozygous mutation in the KMT2D or KDM6A genes.<h4>Case presentation</h4>An 11-year-old ...[more]