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...

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Detalles Bibliográficos
Autores principales: Stoyle, George, Banka, Siddharth, Langley, Claire, Jones, Elizabeth A, Banerjee, Indraneel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
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

Internet

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

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