Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

BACKGROUND: Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal condition that is a ciliopathy. MKS has marked phenotypic variability and genetic heterogeneity, with mutations in nine genes identified as causative to date. METHODS: Families diagnosed with Meckel-Gruber syndrome were recrui...

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Detalhes bibliográficos
Main Authors: Szymanska, Katarzyna, Berry, Ian, Logan, Clare V, Cousins, Simon RR, Lindsay, Helen, Jafri, Hussain, Raashid, Yasmin, Malik-Sharif, Saghira, Castle, Bruce, Ahmed, Mushtag, Bennett, Chris, Carlton, Ruth, Johnson, Colin A
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3579735/
https://ncbi.nlm.nih.gov/pubmed/23351400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2046-2530-1-18
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