CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes

BACKGROUND: Non-progressive cerebellar ataxia with mental retardation (CANPMR, OMIM 614756) and chromosome 1p32-p31 deletion syndrome (OMIM 613735) are two very rare inherited disorders, which are caused by mono-allelic deficiency (haplo-insufficiency) of calmodulin-binding transcription activator 1...

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Detalles Bibliográficos
Autores principales: Coci, Emanuele G., Koehler, Udo, Liehr, Thomas, Stelzner, Armin, Fink, Christian, Langen, Hendrik, Riedel, Joachim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741010/
https://www.ncbi.nlm.nih.gov/pubmed/26848311
http://dx.doi.org/10.1186/s13039-016-0219-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741010/
https://www.ncbi.nlm.nih.gov/pubmed/26848311
http://dx.doi.org/10.1186/s13039-016-0219-y

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