Intraoperative asystole in a patient with nail-patella-syndrome
β Scribed by Trevor Hennessey; Steven Backman; Sarkis Meterissian; Thomas Schricker
- Publisher
- Springer-Verlag
- Year
- 2007
- Tongue
- French
- Weight
- 19 KB
- Volume
- 54
- Category
- Article
- ISSN
- 1496-8975
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We report twenty-two novel mutations in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome (NPS). The mutations comprised eight missense, one splice-site, three insertion/deletion and ten nonsense or frameshift mutations. A sub-set
Isolated patella aplasia-hypoplasia without associated clinical or radiological anomalies is an extremely rare autosomal dominant disorder (Bongers et al., 2005). Isolated patella aplasia-hypoplasia has been reported only in one sporadic case and five families in the literature (Kutz, 1949;Bongers e