Severe congenital microcephaly with AP4M1 mutation, a case report

BACKGROUND: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of essentially postnatal onset. CASE PRESENTATION...

Descripción completa

Detalles Bibliográficos
Autores principales: Duerinckx, Sarah, Verhelst, Helene, Perazzolo, Camille, David, Philippe, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414176/
https://www.ncbi.nlm.nih.gov/pubmed/28464862
http://dx.doi.org/10.1186/s12881-017-0412-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414176/
https://www.ncbi.nlm.nih.gov/pubmed/28464862
http://dx.doi.org/10.1186/s12881-017-0412-9

Ejemplares similares