𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Oral findings in patients with Nijmegen breakage syndrome: A preliminary study

✍ Scribed by Hanna Gregorek; Dorota Olczak-Kowalczyk; Bozenna Dembowska-Bagińska; Barbara Pietrucha; Anna Wakulińska; Dariusz Gozdowski; Krystyna H. Chrzanowska

Book ID
116942643
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
353 KB
Volume
108
Category
Article
ISSN
1528-395X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A patient with mutations in DNA Ligase I
A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome
✍ 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