Focal dermal hypoplasia due to a novel mutation in a boy with klinefelter syndrome

Pediatric Dermatology

Volumn 30, Issue 4, 2013, Pages 476-479

  Alkindi, Said ^a   Battin, Malcolm ^a   Aftimos, Salim ^a   Purvis, Diana ^b  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b Starship Children's Health   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ARTICLE; BLADDER EXSTROPHY; CLINICAL FEATURE; ECTRODACTYLY; EYE MALFORMATION; GENE; GENE MUTATION; GOLTZ SYNDROME; HEMIFACIAL MICROSOMIA; HUMAN; KARYOTYPE; KLINEFELTER SYNDROME; MALE; NAIL HYPOPLASIA; OMPHALOCELE; PORCN GENE; PRIORITY JOURNAL; PUBIS SYMPHYSIS; SYNDACTYLY; TELANGIECTASIA; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; FOCAL DERMAL HYPOPLASIA; HETEROZYGOTE; HUMANS; INFANT; KLINEFELTER SYNDROME; LIMB DEFORMITIES, CONGENITAL; MALE; MEMBRANE PROTEINS;

EID: 84879843861     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/pde.12031     Document Type: Article

References (15)

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