Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism()

Interstitial deletions of chromosome 12p are rare, and the phenotype spectrum is therefore still unknown. The thirteen patients reported so far suffer from developmental delay, optic nerve hypoplasia, micropenis, hypoplastic hair and skin, oligodontia, brachydactyly, and arterial hypertension. We re...

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Detalles Bibliográficos
Autores principales: Hoppe, Anne, Heinemeyer, Jan, Klopocki, Eva, Graul-Neumann, Luitgard M., Spors, Birgit, Bittigau, Petra, Kaindl, Angela M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287802/
https://www.ncbi.nlm.nih.gov/pubmed/25606391
http://dx.doi.org/10.1016/j.mgene.2013.10.014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287802/
https://www.ncbi.nlm.nih.gov/pubmed/25606391
http://dx.doi.org/10.1016/j.mgene.2013.10.014

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