Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

BACKGROUND: Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable bi...

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Detalles Bibliográficos
Autores principales: Fernandez, Bridget A, Green, Jane S, Bursey, Ford, Barrett, Brendan, MacMillan, Andrée, McColl, Sarah, Fernandez, Sara, Rahman, Proton, Mahoney, Krista, Pereira, Sergio L, Scherer, Stephen W, Boycott, Kym M, Woods, Michael O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3523052/
https://www.ncbi.nlm.nih.gov/pubmed/23171239
http://dx.doi.org/10.1186/1471-2350-13-111

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