نتایج جستجو برای: incontinenta pigmenti
تعداد نتایج: 2036 فیلتر نتایج به سال:
In the United States 1.4 million children were maltreated in 1988, resulting in an estimated 2000 to 5000 deaths.1 Largely due to the rising awareness and sensitivity to the horrors of child abuse, the number of deaths declined to approximately 1500 in 1993.2 Guidelines have been published to aid in the identification and management of child maltreatment,3 and reporting of all suspicious cases ...
In the United States 1.4 million children were maltreated in 1988, resulting in an estimated 2000 to 5000 deaths.1 Largely due to the rising awareness and sensitivity to the horrors of child abuse, the number of deaths declined to approximately 1500 in 1993.2 Guidelines have been published to aid in the identification and management of child maltreatment,3 and reporting of all suspicious cases ...
1. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53-9. 2. Pinheiro A, Mathew MC, Thomas M, Jacob M, Srivastava VM, Cherian R, et al. The clinical profile of children in India with pigmentary anomalies along the lines of Blaschko and central nervous system manifestations. Pediatr Dermatol 2007;24:11-7. 3. Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Te...
Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique althoug...
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