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 journalArticle

16 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 languageEnglish
Pages (from-to)564-567
Number of pages4
JournalHuman Genetics
Volume97
Issue number5
Publication statusPublished - 1996 May
Externally publishedYes

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Christianity
Aortic Coarctation
Karyotype
Noonan Syndrome
Kidney
Genes
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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; Honda, Masataka; Nagai, Toshiro; Fukushima, Yoshimitsu; Nakahori, Yutaka; Matsuo, Nobutake.

In: Human Genetics, Vol. 97, No. 5, 05.1996, p. 564-567.

Research output: Contribution to journalArticle

Hasegawa, Tomonobu ; Ogata, Tsutomu ; Hasegawa, Yukihiro ; Honda, Masataka ; Nagai, Toshiro ; Fukushima, Yoshimitsu ; Nakahori, Yutaka ; Matsuo, Nobutake. / 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. In: Human Genetics. 1996 ; Vol. 97, No. 5. pp. 564-567.
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