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

研究成果: Article査読

16 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)564-567
ページ数4
ジャーナルHuman genetics
97
5
DOI
出版ステータスPublished - 1996 5
外部発表はい

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

フィンガープリント

「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」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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