Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at 19 years of age due t...

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Detalles Bibliográficos
Autores principales: Jacobsen, Jessie C., Glamuzina, Emma, Taylor, Juliet, Swan, Brendan, Handisides, Shona, Wilson, Callum, Fietz, Michael, van Dijk, Tessa, Appelhof, Bart, Hill, Rosamund, Marks, Rosemary, Love, Donald R., Robertson, Stephen P., Snell, Russell G., Lehnert, Klaus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4637447/
https://www.ncbi.nlm.nih.gov/pubmed/26587300
http://dx.doi.org/10.1155/2015/454526

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