Cargando…
Difficult tracheal intubation in a patient with maternal uniparental disomy 14
BACKGROUND: Maternal uniparental disomy 14 (UPD(14)mat) is an imprinting disorder. It is a rare disease, but there is the possibility that more undiagnosed patients might exist because the clinical features of UPD(14)mat resemble those of the Prader-Willi syndrome or other congenital diseases. We pe...
Autores principales: | Furutani, Kenta, Kodera, Yoshie, Hiruma, Masataka, Ishii, Hideaki, Baba, Hiroshi |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818854/ https://www.ncbi.nlm.nih.gov/pubmed/29497680 http://dx.doi.org/10.1186/s40981-016-0051-8 |
Ejemplares similares
-
Alström syndrome caused by maternal uniparental disomy
por: Lopour, Madeline Q.R., et al.
Publicado: (2022) -
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis
por: Chan, Alvin P., et al.
Publicado: (2019) -
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
por: Zhang, Shujie, et al.
Publicado: (2016) -
Molecular Mechanisms Leading to the Phenotypic Development in Paternal and
Maternal Uniparental Disomy for Chromosome 14
por: Ogata, Tsutomu, et al.
Publicado: (2008) -
Cytogenetic contribution to uniparental disomy (UPD)
por: Liehr, Thomas
Publicado: (2010)