Cargando…
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...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2023
|
| Materias: | |
| 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 |