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  1. Focal dermal hypoplasia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia
    ... gov Catalog of Genes and Diseases from OMIM FOCAL DERMAL HYPOPLASIA; FDH Scientific Articles on PubMed PubMed References Clements SE, Mellerio JE, Holden ST, McCauley J, ...
  2. PORCN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/porcn
    ... PORCN Gene and Variant Databases NCBI Gene ClinVar References Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA. PORCN gene mutations and the protean nature of focal dermal hypoplasia. Br J Dermatol. 2009 May;160(5):1103- ...
  3. 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 ...
  4. 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; ...
  5. 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. ...
  6. 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 ...
  7. 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 ...
  8. 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 ...
  9. 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 ...
  10. 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 >< ...
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