Cargando…

A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia

SIMPLE SUMMARY: Skeletal dysplasias encompass a clinical-, pathological- and genetically heterogeneous group of disorders characterized by abnormal cartilage and/or bone formation, growth, and remodeling. They may belong to the so-called RASopathies, congenital conditions caused by heterozygous vari...

Descripción completa

Detalles Bibliográficos
Autores principales: Jacinto, Joana G. P., Häfliger, Irene M., Gentile, Arcangelo, Drögemüller, Cord
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8300254/
https://www.ncbi.nlm.nih.gov/pubmed/34209498
http://dx.doi.org/10.3390/ani11071931