Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features

Clinical Dysmorphology 2026

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Authors: Varunvenkat M. Srinivasan, Mayank Nilay, Rani Manisha

DOI: 10.1097/mcd.0000000000000562

Cited by: 0

References: 15

Fields of Study & Subjects

Genomics and Rare Diseases Connective tissue disorders research Craniofacial Disorders and Treatments

References 15