โ Scribed by Robin, Nathaniel H.; Abbadi, Naima; McCandless, Shawn E.; Nadeau, Joseph H.
No coin nor oath required. For personal study only.
Disorganization (Ds) is a mouse mutant best known for producing an exceptional variety of unusual developmental anomalies, such as mirror-limb duplications and hamartomatous skin papillae. So great is the range of malformations that no two affected mice are identical. Several patients with a similar variety of exceptional anomalies have been reported, raising the possibility of the existence of a human homologue of Ds. However, although these human cases represent the most striking findings seen in Ds mice, they do not represent the full range of defects. Most affected mice have only a single malformation, and most of these malformations are similar to both common (neural tube defects, orofacial clefting, gastroschisis, limb reductions) and rare (anophthalmia, duplicated rectum) human birth defects. It is therefore possible that the full spectrum of the human homologue of Ds includes not only patients with the unusual combination of anomalies but also common sporadic birth defects. We suggest that the low penetrance (โผ0-30%) and highly variable expression of Ds make it a paradigm for understanding the genetic basis for many seemingly sporadic birth defects. Am. J. Med. Genet. 73:425-436, 1997.
๐ SIMILAR VOLUMES
Introduction / John Lanchester -- I was diapidated -- Civis Britannicus fuit -- Next to Godliness -- The language of novel reviewing -- Narcissism and its discontents -- Death and the maiden -- Divorce me -- Patty and Cin -- Hagiography -- Vita longa -- Sisters' keepers -- Fortress Freud -- Lady Rot
**An incisive collection of essays by the editor of the _London Review of Books_ , whom Hilary Mantel has called "a presiding genius" ** Mary-Kay Wilmers cofounded the _London Review of Books_ in 1979, and has been its sole editor since 1992. Her editorial life began long before that: she started a
Why do we laugh? The answer, argued Freud in this groundbreaking study of humor, is that jokes, like dreams, satisfy our unconscious desires. The Joke and Its Relation to the Unconscious explains how jokes provide immense pleasure by releasing us from our inhibitions and allowing us to express sexua
In this paper, we intend to study the oldest systematic descriptions of birth malformations in the history of medicine, as they appear in cuneiform texts written four millennia ago in the land between the two rivers, Mesopotamia, the cradle of civilization, the land of Assyro-Babylonian culture. The
"The smile froze on Judy's lips as she heard the scream. It seemed to come from the direction in which she had just walked; she retraced her steps, and saw the girl she had seen earlier, standing by the willow tree, by the pram, her hands to her mouth. 'She's gone!' the girl said. 'The baby's gone.