Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology
Reference3 articles.
1. A Pain in the neck: lessons learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series;Mastromoro;Diagnostics (Basel),2022
2. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1;Giuffrida;Am J Med Genet A,2020
3. Mutations in subunits of the activating signal Cointegrator 1 complex are associated with prenatal spinal muscular atrophy and congenital bone fractures;Knierim;Am J Hum Genet,2016
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1. Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?;Prenatal Diagnosis;2024-02-11
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