A 6 year-old Chinese boy with Kabuki syndrome presented with hypoglycemic seizure. He was diagnosed to have isolated adrenocorticotropin deficiency. To our knowledge, this is the first case of Kabuki syndrome with isolated adrenocorticotropin deficiency in the literature.
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| http://dx.doi.org/10.1515/jpem.2005.18.6.607 | DOI Listing |
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Functional study of three cases with novel TBX19 variants.
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