MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation

MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-d...

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Detalles Bibliográficos
Autores principales: Saleem, Rashid, Setty, Gururaj, Hussain, Nahin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722619/
https://www.ncbi.nlm.nih.gov/pubmed/23901204
http://dx.doi.org/10.4103/0971-6866.112921

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722619/
https://www.ncbi.nlm.nih.gov/pubmed/23901204
http://dx.doi.org/10.4103/0971-6866.112921

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