Identification of a Fetal De Novo Splice Variant in ARCN1 Associated With Growth and Skeletal Abnormalities

Identification of a Fetal De Novo Splice Variant in ARCN1 Associated With Growth and Skeletal Abnormalities

Abstract. Objective:. To report a fetus with ARCN1-related syndrome caused by a novel de novo heterozygous variant, highlighting the importance of early genetic diagnosis in prenatal care. Methods:. The clinical and genetic data of a fetus with a complex combination of clinical signs and a novel de...

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Bibliographic Details
Main Authors: Wencong He, Zejun Yang, Jianjian Cui, Ruilin Ma, Hui Tao, Yanan Li, Yin Zhao, Yang Pan, Jue Li
Format: Article
Language:English
Published: Wolters Kluwer Health 2025-01-01
Series:Maternal-Fetal Medicine
Online Access:http://journals.lww.com/10.1097/FM9.0000000000000263
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