Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.
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| Title: | Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population. |
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| Authors: | Teferedegn E; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Izumi K; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ahrens-Nicklas R; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bhoj E; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rippert A; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64132. Date of Electronic Publication: 2025 Jun 09. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.64132 |