X-linked Wiskott-Aldrich syndrome in a girl

New England Journal of Medicine

Volumn 338, Issue 25, 1998, Pages 1850-

  Cazzola, Mario ^a   Bbrgamaschi, Gaktano ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; CHILD; FEMALE; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETICS; HUMAN; MIDDLE AGED; NEWBORN; NOTE; ONSET AGE; WISKOTT ALDRICH SYNDROME; X CHROMOSOME; HETEROZYGOTE; MOSAICISM; GLYCOGEN STORAGE DISEASE TYPE 5; HEMATOPOIETIC CELL; LETTER; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ADULT; AGE OF ONSET; AGED; CHILD; DOSAGE COMPENSATION, GENETIC; FEMALE; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MIDDLE AGED; WISKOTT-ALDRICH SYNDROME; X CHROMOSOME; HETEROZYGOTE; MOSAICISM;

GLUCOSE 6 PHOSPHATASE;

EID: 19244367778     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199806183382515     Document Type: Article

References (4)

1. Parolini O, Ressmann G, Haas OA, et al. X linked Wiskott-Aldrich syndrome in a girl. N Engl J Med 1998;338:291-5.
2. Puck IM, Willard HF. X inactivation in females with X linked disease. N Engl J Med 1998;338:325-8.
3. Busqué L, Mio R, Mattioli J, et al. Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood 1996;88:59 65.
4. Cotter PD, May A, Fitzsimons El, et al. Late-onset X-linked sideroblastic anemia: missense mutations in the erythroid delta-armnolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. I ("lin Invest 1995;96:2090-6.