A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia

A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia

Abstract The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intraut...

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Bibliographic Details
Main Authors: Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang
Format: Article
Language:English
Published: BMC 2024-12-01
Series:BMC Pediatrics
Subjects:
ARCN1-related syndrome
ARCN1 variant
Central precocious puberty
Online Access:https://doi.org/10.1186/s12887-024-05329-2
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