RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.
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| Title: | RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy. |
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| Authors: | Washington C; Greenwood Genetic Center Greenwood South Carolina USA., Stolerman ES; Greenwood Genetic Center Greenwood South Carolina USA., Cooley-Coleman JA; Greenwood Genetic Center Greenwood South Carolina USA., Jones JR; Greenwood Genetic Center Greenwood South Carolina USA., Chen-Deutsch X; PerkinElmer Genomics Pittsburgh Pennsylvania USA. |
| Source: | Clinical case reports [Clin Case Rep] 2023 Apr 07; Vol. 11 (4), pp. e7165. Date of Electronic Publication: 2023 Apr 07 (Print Publication: 2023). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2050-0904 |
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| DOI: | 10.1002/ccr3.7165 |
