Associated Papers
Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.
Taşdelen E et al.
Molecular Syndromology, 2025
Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.
Cás ED et al.
Clinical Genetics, 2025
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Brooks D et al.
Human Genetics, 2024
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