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Southwestthamesgenetics. nhs. uk Email medgen stgeorges. nhs. uk UKGTN member Incontinentia pigmenti IP Introduction occurs in approximately 1 in 50 000 newborns. 60-65 of IP cases are de novo sporadic cases. The IP gene IKBKG or NEMO NF-KB Essential Modulator consists of 9 coding exons exons 2-10 and 3 alternatively utilised non-coding exons 1a 1b 1c. Males with these hypomorphic mutations get an allelic X-linked recessive immunodeficiency anhidrotic ectodermal dysplasia with severe...
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