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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Bioscientifica Ltd
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109209/ https://www.ncbi.nlm.nih.gov/pubmed/30159147 http://dx.doi.org/10.1530/EDM-18-0085 |