We report on two boys, monozygotic twins born to normal and nonconsanguineous parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstablen
Identification of a mutation in theXNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
✍ Scribed by Villard, Laurent; Font�s, Michel; Ad�s, Lesley C.; Gecz, Jozef
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 19 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000306)91:1<83::aid-ajmg15>3.0.co;2-n
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