Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

Clinical Genetics

Volumn 81, Issue 6, 2012, Pages 532-541

  Carvalho, C M B ^a   Bartnik, M ^a,b   Pehlivan, D ^a   Fang, P ^a   Shen, J ^a,c   Lupski, J R ^a,d  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b INSTITUTE OF MOTHER AND CHILD   (Poland)

^c CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Complex rearrangement; FoSTeS; Manifesting female carriers; Microhomology mediated break induced replication; Penetrance; PLP1; PMD

Indexed keywords

ARTICLE; BLOOD CELL; CASE REPORT; CHEEK; CHILD; CHROMOSOME REARRANGEMENT; CHROMOSOME XQ; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FAMILY; FEMALE; GENE; GENE DUPLICATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN GENOME; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PELIZAEUS MERZBACHER DISEASE; PENETRANCE; PHENOTYPE; PLP1 GENE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FAMILY; FEMALE; GENE DUPLICATION; HETEROZYGOTE; HUMANS; MALE; MUTATION; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PENETRANCE; PHENOTYPE; X CHROMOSOME INACTIVATION;

EID: 84860553716     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01716.x     Document Type: Article

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