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

Tomonobu Hasegawa; Tsutomu Ogata; Yukihiro Hasegawa; Masataka Honda; Toshiro Nagai; Yoshimitsu Fukushima; Yutaka Nakahori; Nobutake Matsuo

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

Tomonobu Hasegawa, Tsutomu Ogata, Yukihiro Hasegawa, Masataka Honda, Toshiro Nagai, Yoshimitsu Fukushima, Yutaka Nakahori, Nobutake Matsuo

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

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.

Original language	English
Pages (from-to)	564-567
Number of pages	4
Journal	Human genetics
Volume	97
Issue number	5
DOIs	https://doi.org/10.1007/BF02281861
Publication status	Published - 1996 May
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Hasegawa, T., Ogata, T., Hasegawa, Y., Honda, M., Nagai, T., Fukushima, Y., Nakahori, Y., & Matsuo, N. (1996). 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. Human genetics, 97(5), 564-567. https://doi.org/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. / Hasegawa, Tomonobu; Ogata, Tsutomu; Hasegawa, Yukihiro et al.
In: Human genetics, Vol. 97, No. 5, 05.1996, p. 564-567.

Research output: Contribution to journal › Article › peer-review

Hasegawa, T, Ogata, T, Hasegawa, Y, Honda, M, Nagai, T, Fukushima, Y, Nakahori, Y & Matsuo, N 1996, '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', Human genetics, vol. 97, no. 5, pp. 564-567. https://doi.org/10.1007/BF02281861

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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

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