A Korean male with Kleefstra syndrome presented with micropenis

Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the euchromatin histone methyl transferase 1 (EHMT1) gene. It can be accompanied by intellectual disability, distinctive facial features, microcephaly, psychiatric disorders, hypotonia in childhood, hearing loss,...

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Bibliographic Details
Main Authors: Rosie Lee (Author), Mi-seon Lee (Author), Jung Eun Moon (Author)
Format: Book
Published: Korean Society of Pediatric Endocrinology, 2023-12-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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