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  1. Focal dermal hypoplasia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia
    ... development. Learn more about the gene associated with Focal dermal hypoplasia PORCN Inheritance Focal dermal hypoplasia is inherited in ...
  2. PORCN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/porcn
    ... human cells. Health Conditions Related to Genetic Changes Focal dermal hypoplasia At least 29 mutations in the PORCN gene have been found to cause focal dermal hypoplasia. These mutations may alter the protein's structure, lead ...
  3. PORCN-Related Developmental Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1543
    ... Help < Prev Next > PORCN -Related Developmental Disorders Synonyms: Focal Dermal Hypoplasia, Goltz Syndrome, Goltz-Gorlin Syndrome V Reid Sutton , ... is preferred by the author over the designation "focal dermal hypoplasia" because not all individuals with the disorder have ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Focal dermal hypoplasia</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  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. 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 ...
  7. 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 ...
  8. 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; ...
  9. 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 ...
  10. 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 ...
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