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Article

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.

BMC medical genetics - 18 Jun 2018

Moon Jung-Eun, Lee Su-Jeong, Ko Cheol Woo

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 29914387
DOI: 10.1186/s12881-018-0606-9
PMCID: PMC6007063

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