Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency

BACKGROUND: De novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. CASE PRE...

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Detalles Bibliográficos
Autores principales: Giri, Dinesh, Rigden, Daniel, Didi, Mohammed, Peak, Matthew, McNamara, Paul, Senniappan, Senthil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544984/
https://www.ncbi.nlm.nih.gov/pubmed/28785287
http://dx.doi.org/10.1186/s13633-017-0047-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544984/
https://www.ncbi.nlm.nih.gov/pubmed/28785287
http://dx.doi.org/10.1186/s13633-017-0047-9

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