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Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
Patient: Male, newborn Final Diagnosis: Absence of heterozygosity on chromosome 11 • de novo heterozygous Col4a1 variant Symptoms: Hypotension • limp • no spontaneous respiratory effort • subclinical seizure Clinical Procedure: Chromosomal microarray • CPAP treatment • electroencephalogram • fetal e...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Scientific Literature, Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176514/ https://www.ncbi.nlm.nih.gov/pubmed/37157232 http://dx.doi.org/10.12659/AJCR.938651 |