Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
Abstract Background Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Here, we report a case of prenatal genetic diagnosis...
Saved in:
Main Authors: | Xiaoliang Liu (Author), Wei Sun (Author), Jun Wang (Author), Guoming Chu (Author), Rong He (Author), Bijun Zhang (Author), Yanyan Zhao (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2021-11-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report
by: Yulin Shi, et al.
Published: (2024) -
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants
by: Stanley M. Kanai, et al.
Published: (2022) -
Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1
by: Guoming Chu, et al.
Published: (2023) -
Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings
by: Yuanyuan Zhang, et al.
Published: (2021) -
Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report
by: Yanyan Qian, et al.
Published: (2020)