Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

A-M Bisgaard, M Kirchhoff, J E Nielsen, M Kibaek, A Lund, M Schwartz, E Christensen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

20 Citationer (Scopus)

Abstract

Udgivelsesdato: 2009-Feb
OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind75
Udgave nummer2
Sider (fra-til)175-9
Antal sider4
ISSN0009-9163
DOI
StatusUdgivet - 2008

Bibliografisk note

Keywords: Alleles; Cerebroside-Sulfatase; Child, Preschool; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 22; Genes, Recessive; Humans; Infant; Leukodystrophy, Metachromatic; Male; Mental Retardation; Mutation; Syndrome

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