| H00969 | |
| H番号 | H00969 |
| 名称 | Skeletal defects, genital hypoplasia, and mental retardation |
| 概要 | This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | ZBTB16 [HSA:7704] [KO:K10055] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.Y MeSH: C567306 OMIM: 612447 |
| 文献 | PMID:18611983 著者 Fischer S, Kohlhase J, Bohm D, Schweiger B, Hoffmann D, Heitmann M, Horsthemke B, Wieczorek D タイトル Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia. 雑誌 J Med Genet 45:731-7 (2008) DOI:10.1136/jmg.2008.059451 |