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Skeletal-cardio-enteric dysplasia, MAP2K2-related — skeletal-cardio-enteric dysplasia

Jacinto et al. (2021) characterized "the pathological phenotype of a Romagnola stillborn calf with skeletal-cardio-enteric dysplasia and ... [identified] a genetic cause by whole-genome sequencing (WGS)."

OMIA ID: 2381Inheritance: 9Characterised: YesYear: 2021