Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
Wiedemann–Steiner Syndrome (WSS) is a rare condition characterised by short stature, hypertrichosis of the elbow, intellectual disability and characteristic facial dysmorphism due to heterozygous loss of function mutations in KMT2A, a gene encoding a histone 3 lysine 4 methyltransferase. Children wi...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2018-08-01
|
| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0085.xml |