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Lisch nodules and iris mammillations in two siblings with familial legius syndrome

  • Published:2020-09 Issue:10 Volume:8 Page:1867-1871
  • ISSN:2050-0904
  • Container-title:Clinical Case Reports
  • language:en
  • Short-container-title:Clin Case Rep

Author:

Bixel Kaitlyn D.1ORCID,Cano Miguel J.1,Johnson Damon M.2,Gomez Benjamin2,Lobsinger Laura V.2,Valentin Frank E.2,Hsieh David T.3,Rohena Luis O.45

Affiliation:

1. Department of Pediatrics Brooke Army Medical Center JBSA – Fort Sam Houston San Antonio Texas

2. Department of Ophthalmology Brooke Army Medical Center JBSA – Fort Sam Houston San Antonio Texas

3. Division of Child Neurology Department of Pediatrics Brooke Army Medical Center JBSA – Fort Sam Houston San Antonio Texas

4. Division of Medical Genetics Department of Pediatrics Brooke Army Medical Center JBSA – Fort Sam Houston San Antonio Texas

5. Division of Medical Genetics Department of Pediatrics University of Texas Health Science Center at San Antonio San Antonio Texas

Publisher

Wiley

Subject

General Medicine

Reference14 articles.

1. StevensonD ViskochilD MaoR.Legius syndrome.https://www.ncbi.nlm.nih.gov/books/NBK47312/. Accessed March 10 2019.

2. Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

3. Review and update ofSPRED1mutations causing legius syndrome

4. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

5. Diagnostic outcome in children with multiple café au lait spots;Koft BR;Pediatrics,1992

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