Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.

Pediatrics

Volumn 109, Issue 6, 2002, Pages

  Dupuis Girod, Sophie ^a   Corradini, Nadège ^a   Hadj Rabia, Smail ^a   Fournet, Jean Christophe ^a   Faivre, Laurence ^a   Le Deist, Françoise ^a   Durand, Philippe ^a   Döffinger, Rainer ^a   Smahi, Asma ^a   Israel, Alain ^a   Courtois, Gilles ^a   Brousse, Nicole ^a   Blanche, Stéphane ^a   Munnich, Arnold ^a   Fischer, Alain ^a   Casanova, Jean Laurent ^a   Bodemer, Christine ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHUK PROTEIN, HUMAN; I KAPPA B KINASE; IKBKB PROTEIN, HUMAN; IKBKE PROTEIN, HUMAN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; PROTEIN SERINE THREONINE KINASE;

ADULT; AGE; ALBERS SCHOENBERG DISEASE; ARTICLE; CASE REPORT; ECTODERMAL DYSPLASIA; GENETICS; HUMAN; IMMUNE DEFICIENCY; INCONTINENTIA PIGMENTI; INFANT; LYMPHEDEMA; MALE; MULTIPLE MALFORMATION SYNDROME; MUTATION; NEWBORN; SEX DIFFERENCE; STOP CODON; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; AGE FACTORS; CODON, TERMINATOR; ECTODERMAL DYSPLASIA; HUMANS; I-KAPPA B KINASE; IMMUNOLOGIC DEFICIENCY SYNDROMES; INCONTINENTIA PIGMENTI; INFANT; INFANT, NEWBORN; LYMPHEDEMA; MALE; MUTATION; NF-KAPPA B; OSTEOPETROSIS; PROTEIN-SERINE-THREONINE KINASES; SEX FACTORS; SYNDROME;

EID: 0036599324     PISSN: None     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.109.6.e97     Document Type: Article

References (0)