We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or
Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development
โ Scribed by Freedenberg, Debra L.; Gane, Louise W.; Richards, Carolyn S.; Lampe, Megan; Hills, Jennifer; O'Connor, Rebecca; Manchester, David; Taylor, Annette; Tassone, Flora; Hulseberg, Dennis; Hagerman, Randi J.; Patil, Shivanand R.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 21 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990730)85:3<197::aid-ajmg1>3.0.co;2-o
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