MCF2 Missense Variant in a Patient with an Aarskog-Scott Syndrome-like Phenotype
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Asset Subtitle
Presenting Author - Daniel Benavides, BS; Co-Author - Donna Novacic, MD; Co-Author - Maria Acosta, MD;
Meta Tag
Bone/Joint Abnormalities
Clinical History
Congenital Anomaly
Dysmorphology
Identification of Disease Genes
Intellectual disability
Phenotype
Variant Detection
Co-Author Donna Novacic, MD
Co-Author Maria Acosta, MD
Presenting Author Daniel Benavides, BS
Keywords
Aarskog-Scott Syndrome
AAS
rare genetic condition
dysmorphic features
neurocognitive disabilities
FGD1 gene
MCF2 gene
phenotype resembling AAS
Molecular mechanisms
genetic basis

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