Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation | Zendy

Yuri A. Zárate | Zendy; Huadong Zhan | Zendy; Julie R. Jones | Zendy

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Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel <b><i>MLL2</i></b> Mutation

Author(s) -

Yuri A. Zárate,

Huadong Zhan,

Julie R. Jones

Publication year - 2012

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000342253

Subject(s) - kabuki syndrome , medicine , nonsense mutation , hypoglycemia , mutation , pediatrics , endocrinology , genetics , missense mutation , biology , insulin , gene

We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some infrequent manifestations including a single umbilical artery, butterfly vertebrae, a small larynx, a preauricular pit, microtia with internal ear abnormalities, abnormal calcium metabolism, premature thelarche, neonatal/persistent hypoglycemia and eventration of the diaphragm. She was found to have a previously unreported nonsense MLL2 mutation. This is the first case that includes all such findings occurring simultaneously that was genotyped.

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