A lethal variant of Netherton syndrome in a large inbred family;Forme létale de syndrome de Netherton au sein d'une famille multiplex consanguine

Archives de Pediatrie

Volumn 18, Issue 3, 2011, Pages 294-298

  Capri, Y ^a   Vanlieferinghen, P ^a   Boeuf, B ^a   Dechelotte, P ^a   Hovnanian, A ^b,c   Lecomte, B ^a  

^a UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c CHU PURPAN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE; GENE MUTATION; GENETIC COUNSELING; HOMOZYGOSITY; HUMAN; LETHALITY; MOLECULAR DIAGNOSIS; NETHERTON DISEASE; PHENOTYPE; PRENATAL SCREENING; SPINK5 GENE;

CONSANGUINITY; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NETHERTON SYNDROME; PROTEINASE INHIBITORY PROTEINS, SECRETORY;

EID: 79951809207     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2010.12.005     Document Type: Article

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