The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900)
✍ Scribed by Gécz, Jozef; Turner, Gillian; Nelson, John; Partington, Michael
- Book ID
- 110026641
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 123 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1018-4813
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## Abstract Börjeson–Forssman–Lehmann syndrome is an X‐linked condition caused by __PHF6__ mutations. The classical description of males with this disorder includes severe intellectual disability with epilepsy, microcephaly, short stature, obesity, hypogonadism, and gynecomastia. We present three m
A detailed map of genetic markers was constructed around the gene for the X-linked mental retardation syndrome of Börjeson-Forssman-Lehmann (BFLS). A multipoint linkage map of framework markers across Xq26-27, based on CEPH families, was integrated with the physical map, based on a YAC contig, to co