Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes

Jeong Hun Jang,Jayoung Oh,Jin Hee Han,Hye-Rim Park,Bong Jik Kim,Sejoon Lee,Min Young Kim,Seungmin Lee,Doo Yi Oh,Yun-Hoon Choung,Byung Yoon Choi

Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes

2019

Jeong Hun Jang
Jayoung Oh
Jin Hee Han
Hye-Rim Park
Bong Jik Kim
Sejoon Lee
Min Young Kim
Seungmin Lee
Doo Yi Oh
Yun-Hoon Choung
Byung Yoon Choi

Aim: The aim of this study was to report a novel POU Class 3 Homeobox 4 (POU3F4) variant and to provide further guidance on genetic counseling for incomplete partition (IP) type III families in the...

Keywords:

Genetics
Frameshift mutation
Homeobox
Genotype
POU domain
Biology
Genetic counseling
incomplete partition

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