A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2
Abstract 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)...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Wiley
2020-02-01
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| Sraith: | Molecular Genetics & Genomic Medicine |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1002/mgg3.1096 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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