Lataa...
Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
This report describes two patients with INPPL1‐ related skeletal dysplasia diagnosed prenatally. A literature review is conducted to find out if high‐lethality is associated with particular pathogenic variants in INPPL1 gene. Prediction of lethality in the prenatal setting has an impact on perinatal...
Tallennettuna:
| Julkaisussa: | Clin Case Rep |
|---|---|
| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
John Wiley and Sons Inc.
2021
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8162397/ https://ncbi.nlm.nih.gov/pubmed/34094554 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.4079 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|