𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

✍ Scribed by Lower, Karen M.; Turner, Gillian; Kerr, Bronwyn A.; Mathews, Katherine D.; Shaw, Marie A.; Gedeon, Ági K.; Schelley, Susan; Hoyme, H. Eugene; White, Susan M.; Delatycki, Martin B.; Lampe, Anne K.; Clayton-Smith, Jill; Stewart, Helen; van Ravenswaay, Conny M. A.; de Vries, Bert B. A.; Cox, Barbara; Grompe, Markus; Ross, Shelley; Thomas, Paul; Mulley, John C.; Gécz, Jozef

Book ID
118676011
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
229 KB
Volume
32
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Further clinical delineation of the Börj
Further clinical delineation of the Börjeson–Forssman–Lehmann syndrome in patients with PHF6 mutations
✍ Melissa T. Carter; David J. Picketts; Alasdair G. Hunter; Gail E. Graham 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB

## 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