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80 results
  1. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... generally not associated with the development of amblyopia. Hair/skin. The hair color ranges from white to ... public domain in the United States of America. References Literature Cited Ammann S, Schulz A, Krageloh-Mann ...
  2. Hutchinson-Gilford Progeria Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1121
    ... patches along with some papules and skin mottling. Hair. Partial alopecia progresses to total alopecia. Sparse downy ... posted live 31 July 2003 (wtb) Original submission References Published Guidelines / Consensus Statements Progeria Research Foundation. The ...
  3. Hypohidrotic Ectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1112
    ... WNT10A Data are compiled from the following standard references: gene from ... HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A 224900 ECTODERMAL DYSPLASIA ...
  4. Wiedemann-Steiner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK580718
    ... 2021 ] Cerebellar atrophy [ Giangiobbe et al 2020 ] Integument/hair. Hypertrichosis is common, occurring in approximately 50%-75% ... posted live 3 August 2021 (fqr) Original submission References Literature Cited Aggarwal A, Rodriguez-Buritica DF, Northrup ...
  5. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... then resolve, but they can leave pitting scars. Hair. The hair is often described as dry, coarse, ... posted live 27 February 2002 (ht) Original submission References Literature Cited Alamillo CL, Powis Z, Farwell K, ...
  6. Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis - GeneReviews® - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK390610
    ... as needed for poor weight gain Cataract Surgical removal of visually significant cataracts ... &/or as needed Orthopedic complications PT assessment ...
  7. Breast Cancer Prevention (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65884
    ... of detrimental genetic mutations increase breast cancer risk. References Kotsopoulos J, Chen WY, Gates MA, et al.: ... Internal Validity : Fair. Consistency : Poor. External Validity : Poor. References Boyd NF, Martin LJ, Rommens JM, et al.: ...
  8. Late Effects of Treatment for Childhood Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65832
    ... context of consideration of benefits, risks, and harms. References National Cancer Institute: NCCR*Explorer: An interactive website ... Survivors of Childhood, Adolescent, and Young Adult Cancers . References Mertens AC, Liu Q, Neglia JP, et al.: ...
  9. Hereditary Leiomyomatosis and Renal Cell Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK568499
    ... leiomyomatosis and renal cell cancer (HLRCC) was introduced. References Reed WB, Walker R, Horowitz R: Cutaneous leiomyomata ... identified in sporadic forms of RCC.[ 21 , 23 ] References Alam NA, Rowan AJ, Wortham NC, et al.: ...
  10. Infections Due to Other Multidrug-Resistant Organisms - Making Healthcare Safer III: A Critical Analysis of Existing ... 
    https://www.ncbi.nlm.nih.gov/books/NBK555533
    ... missed communication and some examples of communication strategies. References for Introduction 1. Siegel JD, Rhinehart E, Jackson ... bathing would be valuable to establishing bathing protocols. References for Section 5.1 1. Edmiston CE, Jr., ...
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