University School of Medicine, this text is a thorough review of the specific molecular genetic techniques that can provide diagnostically useful molecular genetic information on tissue samples—including cytogenetics, fluorescence in situ hybridization (FISH [books.google.com]

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 2000;66:100-9. Google Scholar 9. Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis. [degruyter.com]

Lasater EA, Li F, Bessler WK, Estes ML, Vemula S, Hingtgen CM, et al: Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans. J Clin Invest 2010;120:859-870. [karger.com]

The patient’s past medical history may include potential causes, such as an autoimmune disease, diabetes mellitus, sarcoidosis or vascular disease. [racgp.org.au]

Oculo-Auriculo-Vertebral (OAV) syndrome / sequence, Facio-Auriculo-Vertebral syndrome, Goldenhar-Gorlin syndrome Harlequin ichthyosis ( 1 Files ) Erkrankung: Harlequin ichthyosis ICD 10: Q80.4 Synonyme: Harlequin baby, ichthyosis congenita, Ichthyosis fetalis, keratosis [orphananesthesia.eu]

One large café-au-lait macula under the breasts, and a lot of small, brown neurofibromas Figure 3. Patient No. 3. A lot of small neurofibromas on the trunk Figure 5. [deepdyve.com]

Urticaria pigmentosa may be seen in a small subset of infants. It is a collection of mast cells within the dermis. [patient.info]

These include poor vision, proptosis, afferent pupillary defects, and optic nerve atrophy or papilledema. [healio.com]

[…] exon 15); Parkinson disease, late-onset : Glucosidase beta acid gene ( GBA ) (mutations N370S, L444P); TAY SACHS DISEASE: Hexosaminidase A gene ( HEXA ); MITOCHONDRIAL DISEASES: Mitochondrial recessive ataxia syndrome (MIRAS), Sensory Ataxia Neuropathy Dysarthria [isn.cnr.it]