We report on a new X-linked recessive syndrome in 2 unrelated families, consisting of pre-and postnatal growth excess, typical facial phenotype allowing diagnosis at birth, and usually normal physical and intellectual development. The minor anomalies seen at birth include a "coarse" face with wide n
Clinical and genetic studies on familial parkinsonism: The first report on a parkin gene mutation in a Taiwanese family
โ Scribed by C.-S. Lu; J.-C. Wu; C.-H. Tsai; R.-S. Chen; Y.-H. Wu Chou; N. Hattori; H. Yoshino; Y. Mizuno
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 737 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Germline mutations within the CDKN2A gene, coding for the cyclin-dependent kinase inhibitor p16, have been detected by screening in 8% of Swedish families with an inheritance of cutaneous melanoma (FMM) and dysplastic nevus syndrome (DNS). Contrastingly, the closely related gene CDKN2B had no diseas
Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a
## Abstract Familyโbased association tests (FBATs) provide simple and powerful tests to detect association between a genetic marker and a diseaseโsusceptibility locus, manifest in subjects by a phenotype or disease trait. Here we propose a new class of conditional tests for familyโbased association