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De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome
Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis as well as other distinctive facial traits. We pr...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Syndromol |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
S. Karger AG
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5260604/ https://ncbi.nlm.nih.gov/pubmed/28232779 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000452258 |
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