A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Pediatric Dermatology

Volumn 30, Issue 2, 2013, Pages 250-252

  Raychaudhury, Tanumay ^a   George, Renu ^a   Mandal, Kausik ^a   Srivastava, Vivi M ^a   Thomas, Meera ^a   Bornholdt, Dorothea ^b   Grzeschik, Karl Heinz ^b   Koehler, Angelika ^c  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NICOTINAMIDE ADENINE DINUCLEOTIDE; STEROID REDUCTASE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; EXON; FEMALE; GENE DELETION; HUMAN; HUMAN TISSUE; LIMB DEFECT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SKIN BIOPSY; SKIN DEFECT; X CHROMOSOME;

3-HYDROXYSTEROID DEHYDROGENASES; ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; LIMB DEFORMITIES, CONGENITAL; SYNDROME;

EID: 84874930295     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2012.01729.x     Document Type: Article

References (5)

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