Compound Heterozygous Mutations Involving Splicing Mutations Cause Rothmund–Thomson Syndrome in Two Chinese Families
Abstract. Objective:. Biallelic mutations in the RecQ like helicase (RECQL) 4 gene, a guardian of the genome, cause Rothmund–Thomson syndrome type II (RTS-II). Two Chinese girls with mild-phenotype RTS-II mainly restricted to their skin are herein described. Methods:. Blood specimens from two famili...
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| Principais autores: | , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Health
2021-06-01
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| coleção: | International Journal of Dermatology and Venerology |
| Acesso em linha: | http://journals.lww.com/10.1097/JD9.0000000000000160 |
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