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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| Autores principales: | , , |
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| Formato: | Libro |
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BMC,
2018-06-01T00:00:00Z.
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| Número de Clasificación: |
A1234.567 |
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