Medicine
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10 december 2020 11:58:30 |
| Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature (BMC Medical Genomics) |
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Tweet Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13. |
| 216 viewsCategory: Genomics, Medicine |
 Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups (BMC Medical Genomics)Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1 (BMC Medical Genomics) 
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