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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| Autors principals: | , , |
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| Format: | Llibre |
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Korean Society of Pediatric Endocrinology,
2023-12-01T00:00:00Z.
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A1234.567 |
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