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. 2021 May 11;5(8):bvab086. doi: 10.1210/jendso/bvab086

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© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 1. — Overview of the study cohort and genetic diagnoses reached. (A) Relative percentages of each diagnosis for the research cohort in relation to undiagnosed and resolved categories (n = 155). (B) Numbers of individuals (n = 155) with each genetic diagnosis (upper panel) and number of different affected families (n = 127) (lower panel). Note: data for X-linked adrenal hypoplasia (DAX-1/NR0B1) identified through clinical services not included here. (C) Relative percentages of NR0B1 diagnoses (research and clinical) (combined n = 63) in relation to all diagnosed individuals (n = 154). Data represent the number of individuals, not families.