CLINICAL CONFUSION OF THE NOONAN SYNDROME WITH THE BÖRJESON-FORSSMAN-LEHMANN SYNDROME
✍ Scribed by M. Preus
- Book ID
- 114740010
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 916 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0964-2633
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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