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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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Health
2025-01-01
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| Series: | Maternal-Fetal Medicine |
| Online Access: | http://journals.lww.com/10.1097/FM9.0000000000000263 |
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