Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis

Clinical Genetics

Volumn 76, Issue 4, 2009, Pages 392-397

  Castiglia, D ^a   Castori, M ^a   Pisaneschi, E ^b   Sommi, M ^c   Covaciu, C ^a   Zambruno, G ^a   Fischer, J ^d   Magnani, C ^c  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY HOSPITAL OF PARMA   (Italy)

^d CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

Confined placental mosaicism; Harlequin fetus; Isodisomy; Nonsense mutation; UPD

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A12; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHORION VILLUS; CHROMOSOME 2Q; DISEASE SEVERITY; FEMALE; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GROWTH RETARDATION; HARLEQUIN ICHTHYOSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; ICHTHYOSIS; KARYOTYPING; NEWBORN; OLIGOHYDRAMNIOS; POLYMERASE CHAIN REACTION; PREMATURITY; PRIORITY JOURNAL; RANDOM AMPLIFIED MICROSATELLITE; SEGREGATION ANALYSIS; SKIN EXFOLIATION; TRISOMY; UNIPARENTAL DISOMY;

ATP-BINDING CASSETTE TRANSPORTERS; CHROMOSOMES, HUMAN, PAIR 2; FATAL OUTCOME; FEMALE; HAPLOTYPES; HUMANS; ICHTHYOSIS, LAMELLAR; KARYOTYPING; MICROSATELLITE REPEATS; TRISOMY; UNIPARENTAL DISOMY;

EID: 70350145300     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01198.x     Document Type: Article

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