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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Dettagli Bibliografici
Pubblicato in:J Appl Genet
Autori principali: Ziemnicka, K., Budny, B., Drobnik, K., Baszko-Błaszyk, D., Stajgis, M., Katulska, K., Waśko, R., Wrotkowska, E., Słomski, R., Ruchała, M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2015
Soggetti:
Human Genetics • Case Report
Accesso online: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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