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Volumn 203, Issue 3, 2001, Pages 208-211
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Paradominant inheritance may explain familial occurrence of cutis marmorata telangiectatica congenita
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Author keywords
Autosomal mosaicism; Cutis marmorata telangiectatica congenita; Loss of heterozygosity; Paradominant inheritance; Postzygotic mutation; Van Lohuizen syndrome
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Indexed keywords
CLINICAL FEATURE;
CONGENITAL BLOOD VESSEL MALFORMATION;
CUTIS MARMORATA TELANGIECTATICA CONGENITA;
EMBRYO DEVELOPMENT;
FAMILIAL DISEASE;
HEMIZYGOSITY;
HETEROZYGOSITY;
HOMOZYGOSITY;
HUMAN;
MOSAICISM;
MUTATION;
PHENOTYPE;
PRIORITY JOURNAL;
REVIEW;
CHILD, PRESCHOOL;
FEMALE;
HUMANS;
INFANT;
INFANT, NEWBORN;
MALE;
PEDIGREE;
SKIN DISEASES, VASCULAR;
TELANGIECTASIS;
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EID: 0034767511
PISSN: 10188665
EISSN: None
Source Type: Journal
DOI: 10.1159/000051750 Document Type: Review |
Times cited : (26)
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References (47)
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