| Autor: |
Spiegel, Miriam, Oexle, Konrad, Horn, Denise, Windt, Elke, Buske, Annegret, Albrecht, Beate, Prott, Eva-Christina, Seemanová, Eva, Seidel, Joerg, Rosenbaum, Thorsten, Jenne, Dieter, Kehrer-Sawatzki, Hildegard, Tinschert, Sigrid |
| Předmět: |
|
| Zdroj: |
European Journal of Human Genetics; Jul2005, Vol. 13 Issue 7, p883-888, 6p |
| Abstrakt: |
While growth retardation and short stature are well-known features of patients with classical neurofibromatosis type 1 (NF1), we found advanced height growth and accelerated carpal bone age in patients with an NF1 microdeletion. Our analysis is based on growth data of 21 patients with common 1.4/1.2 Mb microdeletions, including three patients with a Weaver-like appearance. Overgrowth was most evident in preschool children (2-6 years, n=10, P=0.02). We conclude that childhood overgrowth is part of the phenotypic spectrum in patients with the common 1.4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
