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Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency

The role of genetic background in childhood-onset combined pituitary hormone deficiency (CPHD) has been extensively studied. The major contributors are the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes coding transcription factors implicated in pituitary organogenesis. The clinical consequences of mutat...

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Detalhes bibliográficos
Publicado no:J Appl Genet
Main Authors: Ziemnicka, K., Budny, B., Drobnik, K., Baszko-Błaszyk, D., Stajgis, M., Katulska, K., Waśko, R., Wrotkowska, E., Słomski, R., Ruchała, M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4963446/
https://ncbi.nlm.nih.gov/pubmed/26608600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-015-0328-z
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