Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
✍ Scribed by Oscar Rubio-Cabezas; Vishwajeet Puri; Incoronata Murano; Vladimir Saudek; Robert K. Semple; Satya Dash; Caroline S. S. Hyden; William Bottomley; Corinne Vigouroux; Jocelyne Magré; Philippa Raymond-Barker; Peter R. Murgatroyd; Anil Chawla; Jeremy N. Skepper; V. Krishna Chatterjee; Sara Suliman; Ann-Marie Patch; Anil K. Agarwal; Abhimanyu Garg; Inês Barroso; Saverio Cinti; Michael P. Czech; Jesús Argente; Stephen O'Rahilly; David B. Savage
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 498 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1757-4676
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le