Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.P210delFs
Back to variants list

PROP1

NM_006261.5:p.P210delFs

Associated Papers

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.

Almatrafi AM et al.

Medicina (kaunas, Lithuania), 2023

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Jullien N et al.

Clinical Endocrinology, 2021

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

Correa FA et al.

Archives of Endocrinology and Metabolism, 2019

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

Madeira JL et al.

Clinical Endocrinology, 2017

[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].

Halász Z

Orvosi Hetilap, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Basic science and clinical research advances in the pituitary transcription factors: Pit-1 and Prop-1.

Kerr J et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2008

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

Reynaud R et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.

Kelberman D et al.

Annals of Medicine, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."