𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6

✍ Scribed by Jeannie Visootsak; Beth Rosner; Elisabeth Dykens; Charles Schwartz; Kimberly Hahn; Susan M. White; Roxy Szeftel; John M. Graham Jr.


Book ID
116682947
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
436 KB
Volume
145
Category
Article
ISSN
1097-6833

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Further clinical delineation of the Börj
✍ 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

A patient with mutations in DNA Ligase I
✍ Tawfeg I. Ben-Omran; Karen Cerosaletti; Patrick Concannon; Sheila Weitzman; Marj 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 111 KB 👁 1 views

## Abstract The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the __LIG4__ gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growt