Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different path...

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Bibliographic Details
Main Authors: Fernanda A. Correa, Marilena Nakaguma, João L. O. Madeira, Mirian Y. Nishi, Milena G. Abrão, Alexander A. L. Jorge, Luciani R. Carvalho, Ivo J. P. Arnhold, Berenice B. Mendonça
Format: Article
Language:English
Published: Brazilian Society of Endocrinology and Metabolism 2019-05-01
Series:Archives of Endocrinology and Metabolism
Subjects:
PROP1
combined pituitary hormone deficiency
growth hormone deficiency
short stature
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972019000200167&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972019000200167&lng=en&tlng=en

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