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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...

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Detalles Bibliográficos
Autores principales: Patel, Heerali, Elkhwad, Mohammed, Martin, Gregory C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2023
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