Results for Turner Syndrome

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Dr. Stanley’s lab has identified many of the genes and syndromes associated with congenital hyperinsulinism including ABCC8, GCK, GLUD1, and Turner and Beckwith syndromes. Working with clinical and rodent model studies, his lab team has identified distinctive phenotypes of these disorders, including diazoxide unresponsiveness, leucine sensitivity, and protein sensitivity. Dr. Stanley continues to seek new diagnostic and treatment paradigms for infants with acquired and genetic disorders of hyperinsulinism.

E-mail:

stanleyc [at] chop.edu

Jacquelyn Anne Hatch-Stein, MD

Dr. Hatch-Stein's research interests include diabetes, thyroid disorders, and disorders of growth and puberty. Recent clinical research projects include "Bone Health and Cardiovascular Risk in Turner Syndrome" and "Patterns of Height Velocity in Down Syndrome."

E-mail:

hatchsteinj [at] chop.edu

In the News: New Era of Genetics, Grant Awards, Texting Cancer Survivors, Baby Teeth and Autism

Published on

Sep 30, 2016

in Cornerstone Blog

A new month is about to begin, so it seems fitting that this week's research highlights have lots of "new" initiatives that we're excited to report. A new Collaborative will broaden the scope of genetics medicine at The Children's Hospital of Philadelphia.

Diagnostic and Research Growth Center

Providing comprehensive evaluation and treatment for children and adolescents with disorders of growth and puberty, and initiating research activities into the causes of growth-related conditions and quality of life issues.