Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
✍ Scribed by Bestor, Timothy H.; Xu, Guo-Liang; Bourc'his, Déborah; Hsieh, Chih-Lin; Tommerup, Niels; Bugge, Merete; Hulten, Maj; Qu, Xiaoyan; Russo, James J.; Viegas-Péquignot, Evani
- Book ID
- 109822864
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 253 KB
- Volume
- 402
- Category
- Article
- ISSN
- 0028-0836
- DOI
- 10.1038/46052
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah‐Waardenburg syndrome, comprising sensor
## Abstract Du Pan syndrome is a rare acromesomelic dysplasia with characteristic clinical and radiographic findings. It is inherited as an autosomal recessive trait. Almost all the patients reported have been from Muslim countries. We report on a female and her child with Du Pan syndrome from a Ca