Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome

Neu-Laxova syndrome (NLS) is a rare lethal disorder with autosomal recessive inheritance and is characterized by multiple congenital anomalies. Our case of NLS presented with severe intrauterine growth restriction (IUGR), abnormal facial features, severe central nervous system malformations, skeleta...

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Detalles Bibliográficos
Autores principales: Jain, Pragya Virendrakumar, Maxey, Jauntea, W Lawlor, Michael, Parsons, Lauren N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pathology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10249999/
https://www.ncbi.nlm.nih.gov/pubmed/37303350
http://dx.doi.org/10.7759/cureus.38787

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10249999/
https://www.ncbi.nlm.nih.gov/pubmed/37303350
http://dx.doi.org/10.7759/cureus.38787

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