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A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2
BACKGROUND: Congenital symmetric circumferential skin creases (CSCSC) was initially described five decades ago. Exome sequencing has recently revealed the genetic etiology of CSCSC. Pathogenic variants in TUBB (OMIM# 191130) and MAPRE2 (OMIM# 605789) have been linked to CSCSC1 (OMIM# 156610) and CSC...
Kaydedildi:
| Yayımlandı: | Mol Genet Genomic Med |
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| Asıl Yazarlar: | , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7005612/ https://ncbi.nlm.nih.gov/pubmed/31903734 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1096 |
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