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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Detalles Bibliográficos
Autores principales: Ziemnicka, K., Budny, B., Drobnik, K., Baszko-Błaszyk, D., Stajgis, M., Katulska, K., Waśko, R., Wrotkowska, E., Słomski, R., Ruchała, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Human Genetics • Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963446/
https://www.ncbi.nlm.nih.gov/pubmed/26608600
http://dx.doi.org/10.1007/s13353-015-0328-z

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