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Case Reports
. 1996 May;97(5):564-7.
doi: 10.1007/BF02281861.

Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata

T Hasegawa  1 , T Ogata, Y Hasegawa, M Honda, T Nagai, Y Fukushima, Y Nakahori, N Matsuo
Affiliations
Case Reports

Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata

T Hasegawa et al. Hum Genet. 1996 May.

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.

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