Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
✍ Scribed by Joanna Kenny; Melissa M. Lees; Susan Drury; Angela Barnicoat; William van’t Hoff; Rodger Palmer; Deborah Morrogh; Jonathan J. Waters; Nicholas J. Lench; Detlef Bockenhauer
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 247 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0931-041X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We report on a mother and her 5-year old son, both with a terminal deletion of the short arm of the X chromosome. By molecular genetic analysis the breakpoint was located distal to steroid sulfatase gene. The boy manifested, due to nullisomy of this region, short stature (SHOX), chondrodysplasia pun
A 16-year-old boy with Prader-Labhart-Willi syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosi