Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
89 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. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 410 Goldenhar Syndrome C05.116.099.370.380 Focal Dermal Hypoplasia C05.116.099.370.535 Klippel-Feil Syndrome ... Van Creveld Syndrome C16.131.077.350.424 Focal Dermal Hypoplasia C16.131.077.350.712 Neurocutaneous Syndromes C16. ...
  4. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Dysostosis Hallermann's Syndrome Hypertelorism Mandibulofacial Dysostosis Goldenhar Syndrome Focal Dermal Hypoplasia Klippel-Feil Syndrome Orofaciodigital Syndromes Rubinstein-Taybi Syndrome ...
  5. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... 410...........................................Goldenhar Syndrome C05.116.099.370.380...........................................Focal Dermal Hypoplasia C05.116.099.370.535...........................................Klippel-Feil Syndrome ...
  6. 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 ...
  7. 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 ...
  8. 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 >< ...
  9. 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: ...
  10. 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, ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · next · last