Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family

Clin Endocrinol (Oxf). 2017 Dec;87(6):874-876. doi: 10.1111/cen.13400. Epub 2017 Jul 21.

Authors

Catalina Cabrera-Salcedo^{1

2}, Amy S Shah^{1

2}, Melissa Andrew¹, Leah Tyzinski¹, Vivian Hwa^{1

2}, Iris Gutmark-Little^{1

2}, Philippe Backeljauw^{1

2}, Andrew Dauber^{1

2}

Affiliations

¹ Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
² Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

No abstract available

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural

MeSH terms

Adult
Aged
Child
Child, Preschool
Dwarfism, Pituitary / blood
Dwarfism, Pituitary / genetics*
Dwarfism, Pituitary / physiopathology
Female
Human Growth Hormone / deficiency
Human Growth Hormone / genetics*
Humans
Mutation
Pedigree

Substances

Human Growth Hormone

Grants and funding