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...

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Detalles Bibliográficos
Autores principales: Abumansour, Iman Sabri, Iskandarani, Radiah Mahmoud, Edrees, Alaa, Javed, Farrukh, Taher, Fadwah, Hakeem, Ghaidaa Farouk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162397/
https://www.ncbi.nlm.nih.gov/pubmed/34094554
http://dx.doi.org/10.1002/ccr3.4079

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162397/
https://www.ncbi.nlm.nih.gov/pubmed/34094554
http://dx.doi.org/10.1002/ccr3.4079

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