Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.
Title | Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation. |
Publication Type | Journal Article |
Year of Publication | 2012 |
Authors | Zarate YA, Zhan H, Jones JR |
Journal | Mol Syndromol |
Volume | 3 |
Issue | 4 |
Pagination | 180-4 |
Date Published | 2012 Oct |
ISSN | 1661-8769 |
Abstract | 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. |
DOI | 10.1159/000342253 |
Alternate Journal | Mol Syndromol |
Citation Key | 1216 |
PubMed ID | 23239960 |
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