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

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.

SUBMITTER: Zarate YA

PROVIDER: S-EPMC3507269 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature

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

Zarate Y A YA Zhan H H Jones J R JR

Molecular syndromology 20120830 4

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 simu ...[more]

PMID: 23239960

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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome.

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