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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Int J Pediatr Endocrinol |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5544984/ https://ncbi.nlm.nih.gov/pubmed/28785287 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13633-017-0047-9 |
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