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- W67605869 endingPage "62" @default.
- W67605869 startingPage "39" @default.
- W67605869 abstract "This chapter discusses certain genetically determined conditions affecting the children. There are a number of disorders in which both the nervous system and the skin are affected. There is strong evidence for a dominant mode of inheritance in most, which suggests a genetically determined defect of the ectodermal tissue. The overlap between certain abnormalities of the retina and skin also raises the possibility of common etiological factors. Neurofibromatosis (von Recklinghausen's disease) has a dominant mode of inheritance linked to chromosome 17, but a very variable penetrance, and a high mutation rate. Its manifestations may consist of six or more areas of cutaneous pigmentation or café-au-lait spots, or of extensive deformities and tumor formation, with all manner of intermediate variations. The number of café-au-lait spots tends to increase as the child grows older and may be associated with subcutaneous nodules and sometimes with plexiform neuromas. Tuberous sclerosis is inherited in the same manner as neurofibromatosis, and a gene linked to the condition has been located on chromosome 9 and a second gene on chromosome 11." @default.
- W67605869 created "2016-06-24" @default.
- W67605869 creator A5044231422 @default.
- W67605869 date "1993-01-01" @default.
- W67605869 modified "2023-09-26" @default.
- W67605869 title "Certain genetically-determined conditions" @default.
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- W67605869 doi "https://doi.org/10.1016/b978-0-7506-0898-5.50009-2" @default.