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

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

Abstract 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 defi...

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Bibliographic Details
Main Authors: Jung-Eun Moon, Su-Jeong Lee, Cheol Woo Ko
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Medical Genetics
Subjects:
Kabuki syndrome
KMT2D gene
Growth hormone deficiency
Constitutional delay of puberty
Online Access:http://link.springer.com/article/10.1186/s12881-018-0606-9

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