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The results of a British study involving 123 NPS patients are compared with previously published studies and it is suggested that neurological and vasomotor symptoms are also part of the NPS phenotype. In addition, the first data on the incidence of glaucoma and gastrointestinal (GI) symptoms in NPS are presented. NPS is caused by loss of function mutations in the transcription factor <jats:italic>LMX1B<\/jats:italic> at 9q34. The expansion of the clinical phenotype is supported by the role of <jats:italic>LMX1B<\/jats:italic> during development.<\/jats:p>","DOI":"10.1136\/jmg.40.3.153","type":"journal-article","created":{"date-parts":[[2003,3,6]],"date-time":"2003-03-06T15:44:26Z","timestamp":1046965466000},"page":"153-162","source":"Crossref","is-referenced-by-count":244,"title":["Nail patella syndrome: a review of the phenotype aided by developmental 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