𝔖 Bobbio Scriptorium
✦   LIBER   ✦

An intronic mutation in DKC1 in an infant with Høyeraal–Hreidarsson syndrome

✍ Scribed by Toni Pearson; Fiona Curtis; Ayman Al-Eyadhy; Salem Al-Tamemi; Bruce Mazer; Yigal Dror; Sharon Abish; Sherri Bale; John Compton; Reena Ray; Patrick Scott; Vazken M. Der Kaloustian

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
96 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutilating hand syndrome in an infant wi
Mutilating hand syndrome in an infant with familial carpal tunnel syndrome
✍ Kathryn J. Swoboda; Elizabeth C. Engle; Benjamin Scheindlin; Douglas C. Anthony; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 236 KB 👁 1 views

A 7-month-old infant, son of consanguinous Indian parents, presented with recurrent chewing of his digits in a median nerve distribution as the primary manifestation of carpal tunnel syndrome, in conjunction with features consistent with congenital insensitivity to pain. Electromyography (EMG) demon