Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene

European Journal of Pediatrics

Volumn 160, Issue 5, 2001, Pages 296-299

  Zankl, Andreas ^a   Addor, Marie Claude ^a   Cousin, Pascal ^a   Gaide, Anne Claude ^a   Gudinchet, François ^a   Schorderet, Daniel F ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Ectodermal dysplasia; Ectodermal dysplasia anhydrotic; Mortality; Translocation; X linked hypohydrotic ectodermal dysplasia

Indexed keywords

ANHIDROTIC ECTODERMAL DYSPLASIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME TRANSLOCATION; FATALITY; FEMALE; GENE TRANSLOCATION; HUMAN; INFANT; MONOZYGOTIC TWINS; PATHOGENESIS; PRIORITY JOURNAL; TRACHEA OBSTRUCTION; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA; FATAL OUTCOME; FEMALE; HUMANS; HYPOHIDROSIS; INFANT; INFANT, NEWBORN; LINKAGE (GENETICS); TRANSLOCATION, GENETIC; TWINS, MONOZYGOTIC; X CHROMOSOME;

EID: 0035048112     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310100738     Document Type: Article

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