تحميل...
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome
Biallelic pathogenic variants in KLHL7 are known to result in Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) like phenotype and Bohring-Opitz-like syndrome. In this report, a trio whole-exome sequencing (WES) was performed in proband with cold-induced sweating, microcephaly, fa...
محفوظ في:
| الحاوية / القاعدة: | Eur J Med Genet |
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| المؤلفون الرئيسيون: | , , , , |
| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
2018
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6386622/ https://ncbi.nlm.nih.gov/pubmed/30142437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2018.08.009 |
| الوسوم: |
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