TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3 gene (TBX3), with considerable variability in the clinical phenotype be...

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Detalles Bibliográficos
Autores principales: Tung, Moon Ley, Chandra, Bharatendu, Kotlarek, Jaclyn, Melo, Marcelo, Phillippi, Elizabeth, Justice, Cristina M., Musolf, Anthony, Boyadijev, Simeon A., Romitti, Paul A., Darbro, Benjamin, El-Shanti, Hatem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498434/
https://www.ncbi.nlm.nih.gov/pubmed/36140816
http://dx.doi.org/10.3390/genes13091649

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