Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Mar 5;23(7):1202–1210. doi: 10.1038/s41436-021-01119-8

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Fig. 3 — The upper panel shows the comparison of frequency of selected phenotypes between males and females with either PTVs or PAVs. Clinical features are arranged alphabetically from left to right. The lower panel shows the comparison of anthropometric data of patients at birth and at last examination. The y-axis denotes SD. Horizontal red lines depict +2 SD and −2 SD. Groups for which we had sparse data (female PAV birth weight and HC) have not been shown in these charts. CNS central nervous system, HC head circumference, PAV protein-altering variants (e.g., missense, in-frame indels), PTV protein-truncating variants (e.g., nonsense, frameshift, splice site).