| 单词 | Lentigines Syndrome,Multiple |
| 释义 | Lentigines Syndrome,Multiple《英文msh词典》Lentigines Syndrome,Multiple [入口词] Lentigines Syndrome,Multiple [主题词] LEOPARD Syndrome [英文释义] A syndrome characterized by Lentigines (LENTIGO); Electrocardiographic conduction abnormalities; Ocular HYPERTELORISM; PULMONARY STENOSIS; Abnormal genitalia; Retardation of growth; and Deafness (HEARING LOSS,SENSORINEURAL). It is caused by mutations of the PTPN11 gene which codes for non-receptor PROTEIN TYROSINE PHOSPHATASE,type 11. The clinical features of LEOPARD syndrome overlap those of NOONAN SYNDROME,also caused by mutations in PTPN11,as well as those of NEUROFIBROMATOSIS 1. The syndrome has also been associated with mutations in the NF1 gene (GENES,NEUROFIBROMATOSIS 1). (J Med Genet 2002 Aug;39(8):571-4) |
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