ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract This paper describes a 12-year-old Japanese boy with coarctation of the aorta, renal hypoplasia, Turner/Noonan surface anomalies, and a 46,XY karyotype. Although the patient might represent an exceptional case of Noonan syndrome, the combination of the somatic stigmata appears to be consistent with a mutation of the putative lymphogenic gene(s) for Turner somatic stigmata.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02281861