A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood

Clin Endocrinol (Oxf). 2015 Sep;83(3):437-9. doi: 10.1111/cen.12748. Epub 2015 Mar 6.

Affiliations

¹ Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
² Department of Woman, Child and General and Specialized Surgery, Seconda Univesità degli Studi di Napoli, Napoli, Italy. pierluigi.marzuillo@gmail.com.
³ University of Trieste, Trieste, Italy.
⁴ Department of Woman, Child and General and Specialized Surgery, Seconda Univesità degli Studi di Napoli, Napoli, Italy.

PMID: 25683362
DOI: 10.1111/cen.12748

No abstract available

Publication types

Case Reports
Letter

MeSH terms

CREB-Binding Protein / genetics*
Female
Growth Hormone / deficiency*
Humans
Infant, Newborn
Mutation*
Rubinstein-Taybi Syndrome / diagnosis
Rubinstein-Taybi Syndrome / genetics*
Rubinstein-Taybi Syndrome / metabolism*

Substances

Growth Hormone
CREB-Binding Protein
CREBBP protein, human