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254 results
  1. ... K, Hwa V, Saal HM. Prenatal diagnosis of Proteus syndrome: diagnosis of an AKT1 mutation from amniocytes. Birth Defects ...
  2. ... PubMed PubMed References Biesecker L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet. 2006 Nov; ... Graham JM Jr, Viljoen DL, Cohen MM Jr. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999 ...
  3. ... Graham JM Jr, Viljoen DL, Cohen MM Jr. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999; ...
  4. ... not meet the strict guidelines for a clinical diagnosis of Proteus syndrome. Instead, these individuals have a condition that is ...
  5. NLM Digital Collections - Annual report - National Eye Institute (1992) 
    Publication: [Bethesda, Md.] : National Eye Institute
    ... JC, Kaiser-Kupfer MI: Ophthalmological examination in the diagnosis of Proteus syndrome. Ophthalmology, in press. Bouzas EA, Parry DM, Eldridge ...
  6. NLM Digital Collections - Annual report - National Eye Institute (1993) 
    Publication: [Bethesda, Md.] : National Eye Institute
    ... JC, Kaiser-Kupfer MI: Ophthalmological examination in the diagnosis of Proteus syndrome. Ophthalmology 100:334-338, 1993. Bouzas EA, Freidlin ...
  7. ... PTEN pathogenic variant. PTEN -related Proteus syndrome and Proteus-like syndrome are also autosomal dominant disorders but are almost always caused by a de novo pathogenic variant. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  8. ... symptoms. It is unclear how these signs and symptoms are related to abnormal growth.</html:p><html:p >Other potential complications of Proteus syndrome include an increased risk of developing various types ...
  9. ... Craniofacial and dental manifestations of a case of Proteus syndrome” J Indian Soc Pedod Prev Dent. 2004 Sep; 22 (3):154–7. X-1. [ PubMed : 15573665 ] 855. Davidson S, Guinn C, Gacharna D. Diagnosis and treatment of negative pressure pulmonary edema in ...
  10. ... Table 3. Genes of Interest in the Differential Diagnosis of Neurofibromatosis 1 View in own window Gene(s) Disorder MOI Clinical Characteristics / Comment AKT1 1 Proteus syndrome See footnote 1. Hamartomatous overgrowth of multiple tissues, ...
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