A carregar...
Report of Two Novel Mutations in Indian Patients with Rothmund–Thomson Syndrome
Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by mutations in RECQL4 and has characteristic clinical features. We report two unrelated phenotypically diverse patients (cases 1 and 2) with RTS having novel variants in RECQL4 gene . Case-1 was evaluated for poor growth...
Na minha lista:
| Publicado no: | J Pediatr Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2019
|
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6688877/ https://ncbi.nlm.nih.gov/pubmed/31406625 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1684017 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|