2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Skeletal Dysplasia Due to a Known Variant of the MAP3K7 Gene with Unique Findings in a Newborn

Skeletal Dysplasia Due to a Known Variant of the MAP3K7 Gene with Unique Findings in a Newborn

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Presenting Author - Emma Bradley, MSGC; Co-Author - Nora Urraca, MD, PhD; Co-Author - Stephen F. Miller, MD; Co-Author - Eniko K. Pivnick, MD;

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Bone/Joint Abnormalities

Clinical History

Congenital Anomaly

Dysmorphology

Genotype-Phenotype Correlations

Phenotype

Co-Author Nora Urraca, MD, PhD

Co-Author Stephen F. Miller, MD

Co-Author Eniko K. Pivnick, MD

Presenting Author Emma Bradley, MSGC