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Wiskott–Aldrich syndrome in a female with skewed X-chromosome inactivation

✍ Scribed by Nuria Andreu; Núria Pujol-Moix; Luis Martinez-Lostao; Marta Oset; Eduardo Muñiz-Diaz; Xavier Estivill; Victor Volpini; Cristina Fillat


Book ID
117726566
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
141 KB
Volume
31
Category
Article
ISSN
1079-9796

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B�rjeson-Forssman-Lehmann syndrome in a
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Bo ¨rjeson-Forssman-Lehmann (BFL) syndrome is an X-linked recessive disorder characterized by minor facial anomalies, obesity, epilepsy, and severe mental retardation. The phenotype of male patients is usually severe, whereas that of carriers is less severe, suggesting X-linked incompletely recessiv