Associated Papers
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.
Mittal S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2026
Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.
Zhu M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2026
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.
Brand MR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome.
Sim H et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Lin AE et al.
American Journal of Medical Genetics. Part A, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA et al.
American Journal of Human Genetics, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Vanbelleghem E et al.
European Journal of Human Genetics : Ejhg, 2024
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
Slezak R et al.
Genes, 2021
Select a paper to view details