Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24

Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birth weight, severe microcephaly, and dysmorphic facial appearance with receding forehead, prominent nose, and micrognathia. We have performed a genomic screen in two consanguineous families of Pakistani origin and found that th...

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Bibliografiska uppgifter
Huvudupphovsmän: Goodship, Judith, Gill, Harinder, Carter, Joan, Jackson, Andrew, Splitt, Miranda, Wright, Michael
Materialtyp: Artigo
Språk:Inglês
Publicerad: The American Society of Human Genetics 2000
Ämnen:
Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287195/
https://ncbi.nlm.nih.gov/pubmed/10889046
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