Bo È rjeson-Forssman-Lehmann syndrome (BFLS) is a syndromic X-linked mental retardation that has been mapped by linkage to Xq26±q27. A nonsyndromic mental retardation family, MRX27, has also been localized to a region of the X chromosome overlapping Xq26±q27. The gene for ARH-GEF6 (also known as aPI
✦ LIBER ✦
Gene localization in Börjeson-Forssman-Lehmann syndrome and other X-linked mental retardation syndromes
✍ Scribed by Chudley, Albert E.
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 70 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0148-7299
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## Abstract We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have low‐set cupped ears with sensorineural hearing loss, normal phall