Nobuo Matsuura

TL;DR: A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children and neither familial occurrence nor parental consanguinity was noted.

TL;DR: These 62 patients with the Kabuki make-up syndrome were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the phenotypic spectrum and to learn about its cause.

TL;DR: In 1960, Sutherland and Sutherland reported on children with familial nongoitrous cretinism born of a hypothyroid mother with Hashimoto's disease, and Goldsmith et al.2 studied this family in de...

TL;DR: In this paper, an insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity, where valine is substituted for Gly996, the third glycine in the conserved Gly-X-Gly -X-X -Gly motif in the putative binding site fo adenosine triphosphate.

TL;DR: The benefits of newborn screening for CAH were prevention of severe adrenal crisis, its sequela, incorrect male sex assignment of severely virilized female newborns, and progressive signs of androgen excess.