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13 results
  1. Incontinentia Pigmenti - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1472
    ... Information Page National Library of Medicine Genetics Home Reference Incontinentia pigmenti Incontinentia Pigmenti Genetic Biobank (IPGB) IGB-CNR Via ...
  2. Skin Pigmentation Disorders | Hyperpigmentation | MedlinePlus 
    https://medlineplus.gov/skinpigmentationdisorders.html
    ... and Research) Hyperpigmentation (American Osteopathic College of Dermatology) Incontinentia Pigmenti (Genetic and Rare Diseases Information Center) Lentigines (American ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/incontinentia-pigmenti</url><title >Incontinentia pigmenti</title><other_names ><other_ ...
  4. Microphthalmia with Linear Skin Defects Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7041
    ... manifestations In focal dermal hypoplasia: limb & skeletal malformations Incontinentia pigmenti (IP) IKBKG ( NEMO ) XL Skin lesions Ocular abnormalities ( ... in 35% of those w/IP diagnosis) In incontinentia pigmenti: Erythema followed by blisters (vesicles) anywhere on the ...
  5. NSDHL-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51754
    ... lesions seen in some ENSs IKBKG (formerly NEMO ) Incontinentia pigmenti XL Embryonic lethality in many males Skin lesions ... The evolution of the four skin stages in incontinentia pigmenti may or may not occur in all individuals. ...
  6. Hypohidrotic Ectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1112
    ... risk for recurrent infections, hypogammaglobulinemia, T cell dysfunction Incontinentia pigmenti XL Atrophic hair Normal sweating ability, 4-stage ... inheritance; NR = not reported; XL = X-linked 1. Incontinentia pigmenti manifests in stages that evolve sequentially: stage I ( ...
  7. Skin Conditions | Hives | Acne | MedlinePlus 
    https://medlineplus.gov/skinconditions.html
    ... with confetti: MedlinePlus Genetics (National Library of Medicine) Incontinentia pigmenti: MedlinePlus Genetics (National Library of Medicine) Junctional epidermolysis ...
  8. Resources for Genetics Professionals — Mosaicism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK585455
    ... in non-mosaic males w/germline variant IKBKG Incontinentia pigmenti XL Lethal in nonmosaic males w/germline variant ...
  9. Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535152
    ... 100% IFT122 LOC653712 Cranioectodermal dysplasia ~10% IKBKG IKBKGP1 Incontinentia pigmenti ~75% KAL1 KALP Kallmann syndrome (See Isolated Gonadotropin- ...
  10. Spondylocostal Dysostosis, Autosomal Recessive - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK8828
    ... dysplasia, Silverman-Handmaker type (OMIM 224410 ) IKBKG XL Incontinentia pigmenti JAG1 AD Alagille syndrome NOTCH2 AD KMT2D AD ...
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