Genetic counseling in segmental neurofibromatosis.
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Summary
The importance of establishing and strictly adhering to a set of diagnostic criteria and of obtaining a comprehensive family history when reporting cases of segmental neurofibromatosis is emphasized.
- Type
- review
- Published
- 1990-01-01
- Cited by
- 39
- References
- 15
- OpenAlex
- https://openalex.org/W1984608671
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:40986801
Keywords
Neurofibromatosis, Medicine, Genetic counseling, Disease, Family history
References
- Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.
- Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.
- A clinical, pathological, and genetic study of multiple neurofibromatosis
- Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants.
- Somatic variation and multiple neurofibromatosis.
- Bilateral dermatomal neurofibromatosis.
- Multiple papules in a localized area. Segmental neurofibromatosis.
- Von Recklinghausen neurofibromatosis.
- Iris hamartomas (Lisch nodules) in a case of segmental neurofibromatosis.
- Non-von Recklinghausen's neurofibromatosis presenting as hemifacial neurofibromas and contralateral café au lait spots.
- Neurofibromatosis: clinical heterogeneity.
- Familiarity, recessivity and germline mosaicism
- Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22
- Cutaneous segmental neurofibromatosis.
- Segmental Neurofibromatosis
Cited by
- What is segmental neurofibromatosis?
- Pediatric zygomaxillary neurofibromatosis type 1: case report.
- Glomeruloid hemangioma –‐ a specific cutaneous marker of POEMS syndrome
- Mosaic Neurofibromatosis Type 1: A Systematic Review
- Diagnosis of Neurofibromatosis by Cutaneous Examination
- Agminated Lentiginosis: Case Report and Review of the Literature
- SEGMENTAL NEUROFIBROMATOSIS CLINICALLY APPEARING AS A NEVUS SPILUS
- The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.
- Regional Eruptive Neurofibromas
- Segmental neurofibromatosis: case reports and review.
- From the clinic to the research laboratory. The role of the clinician in molecular genetic studies.
- Deep-seated segmental neurofibromatosis without café au lait spots
- Segmental neurofibromatosis of the sciatic nerve: case report.
- Segmental neurofibromatosis; an uncommon variant of neurofibromatosis
- What is segmental neurofibromatosis?
- Partial Unilateral Lentiginosis Associated with Segmental Neurofibromatosis
- Bilateral segmental neurofibromatosis: a case report and review
- Segmental neurofibromatosis in childhood
- SEGMENTAL NEUROFIBROMATOSIS WITH IPSILATERAL RENAL AGENESIS
- Segmental neurofibromatosis: a rare or underestimated disease?
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