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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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Korean Society of Pediatric Endocrinology
2023-12-01
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| Edice: | Annals of Pediatric Endocrinology & Metabolism |
| Témata: | |
| On-line přístup: | http://e-apem.org/upload/pdf/apem-2244174-087.pdf |
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