Article
A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.
BMC pediatrics - 27 Dec 2024
Chang Guoying, Yang Fan, Ying Lingwen, Zhang Qianwen, Feng Biyun, Chen Yao, Ding Yu, Yu Tingting, Yao Ruen, Lin Kana, Li Juan, Wang Xiumin
Abstract excerpt
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, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting...
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