Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion-Reference-Cited by-同舟云学术

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

Published:2022-05-17 Issue:1 Volume:9 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Okazaki Tetsuya,Kawaguchi Tatsuya,Saiki Yusuke,Aoki Chisako,Kasagi Noriko,Adachi Kaori,Saida Ken,Matsumoto Naomichi,Nanba Eiji^ORCID,Maegaki Yoshihiro

Abstract

AbstractThere is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 99282717–100062596) (hg19). The following genes were included in this region: POU3F2, FBXL4, FAXC, COQ3, PNISR, USP45, TSTD3, CCNC, and PRDM13.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-022-00194-w.pdf

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