A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

BACKGROUND: Meckel–Gruber syndrome (MKS) is a well‐known rare disease that can be detected on prenatal ultrasound. Meckel–Gruber syndrome has very heterogeneous etiology; at least, 17 genes have been described in association with MKS. The characteristic findings in fetuses affected by MKS are enceph...

Descripción completa

Detalles Bibliográficos
Autores principales: Ridnõi, Konstantin, Šois, Marek, Vaidla, Eve, Pajusalu, Sander, Kelder, Larissa, Reimand, Tiia, Õunap, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503012/
https://www.ncbi.nlm.nih.gov/pubmed/30851085
http://dx.doi.org/10.1002/mgg3.614

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503012/
https://www.ncbi.nlm.nih.gov/pubmed/30851085
http://dx.doi.org/10.1002/mgg3.614

Ejemplares similares