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The tale of two genes: from next-generation sequencing to phenotype.

Mersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer +2 more · 2020 · Cold Spring Harbor molecular case studies · Cold Spring Harbor Laboratory · added 2026-04-24

Mersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, Christina Hung, Olaf Bodamer Show less

An 18-yr-old man with a history of intellectual disability, craniofacial dysmorphism, seizure disorder, and obesity was identified to carry a de novo, pathogenic variant in

📄 PDF DOI: 10.1101/mcs.a004846

MC4R

👤 Mersedeh Rohanizadegan

The tale of two genes: from next-generation sequencing to phenotype.