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21 results
  1. PORCN-Related Developmental Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1543
    ... posted live 6 February 2008 (vrs) Original submission ... S, Battin M, Aftimos S, Purvis D. Focal dermal hypoplasia due to a novel pathogenic variant in a ...
  2. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... 4717592 ] 180. Gottlieb SK, Fisher BK, Violin GA. Focal dermal hypoplasia. A nine-year follow-up study. Arch Dermatol. ... Dental and oral lesions in two patients with focal dermal hypoplasia (Goltz syndrome). Br Dent J. 2000 Nov 25; ...
  3. Microphthalmia with Linear Skin Defects Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7041
    ... s clerocornea), and argued that (in contrast to focal dermal hypoplasia ) the erythematous lesions of dermal aplasia do not ... Disorder Gene(s) MOI Clinical Features Overlapping Distinguishing Focal dermal hypoplasia (Goltz syndrome) PORCN XL Distinctive skin findings (dermal ...
  4. Aicardi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1381
    ... Cataract, microcornea Short stature Microcephaly is severe. PORCN Focal dermal hypoplasia (Goltz syndrome) XL Normal & ID Microphthalmia, coloboma Cutis ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia</url><title >Focal dermal hypoplasia</title><other_names >< ...
  6. Skin Conditions | Hives | Acne | MedlinePlus 
    https://medlineplus.gov/skinconditions.html
    ... rubra pilaris: MedlinePlus Genetics (National Library of Medicine) Focal dermal hypoplasia: MedlinePlus Genetics (National Library of Medicine) Harlequin ichthyosis: ...
  7. Fryns Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1459
    ... set eyes, wide nasal tip), & skeletal anomalies PORCN Focal dermal hypoplasia (Goltz syndrome) XL Rare Linear skin pigmentation, fat ... posted live 8 January 2007 (ams) Original submission References Literature Cited Alessandri JL, Gordon CT, Jacquemont ML, ...
  8. Osteopathia Striata with Cranial Sclerosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK569515
    ... of dysmorphic features Absence of metaphyseal striations PORCN Focal dermal hypoplasia (Goltz syndrome) XL Metaphyseal striations Ectodermal manifestations Limb ...
  9. Congenital Diaphragmatic Hernia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1359
    ... autism, ID Hypotonia, facial dysmorphism, visual impairment PORCN Focal dermal hypoplasia XL + Asymmetry of the face, trunk, & extremities; skin ... posted live 6 June 2005 (brp) Original submission References Literature Cited Abman SH, Hansmann G, Archer SL, ...
  10. Resources for Genetics Professionals — Mosaicism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK585455
    ... mosaicism for gain-of-function variants identified PORCN Focal dermal hypoplasia XL All affected males & some affected females are ... mosaicism revised 27 October 2022 (sw) Initial posting References Abi Habib W, Brioude F, Azzi S, Salem ...
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