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Börjeson-Forssman-Lehmann syndrome: A case report
Langui Pan1, Fei Yin2, Shimeng Chen3
1Department of Pediatrics, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China. 865132153@qq.com.
Summary
Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. A novel PHF6 gene mutation was identified in a pediatric case, highlighting the need for further research into this condition.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability disorder.
- Key features include intellectual disability, characteristic facial features, limb anomalies, hypogonadism, and skin hyperpigmentation.
- Current therapeutic options for BFLS are limited.
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