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MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent

MEIS2 (Meis homeobox 2) encodes a homeobox protein in the three amino acid loop extension (TALE) family of highly conserved homeodomain-containing transcription regulators important for development. MEIS2 deletions/mutations have been associated with cleft lip/palate, dysmorphic facial features, car...

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Detalles Bibliográficos
Autores principales: Zhang, Bin, Liu, Michel, Fong, Chin-To, Iqbal, M. Anwar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8690878/
https://www.ncbi.nlm.nih.gov/pubmed/34930369
http://dx.doi.org/10.1186/s13039-021-00570-1