Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome

BACKGROUND: Rubinstein–Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces. RSTS patients showed intellectual disability and health problems such as short stature...

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Detalles Bibliográficos
Autores principales: Choi, Naye, Kim, Hwa Young, Lim, Byung Chan, Chae, Jong‐Hee, Kim, Soo Yeon, Ko, Jung Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580098/
https://www.ncbi.nlm.nih.gov/pubmed/34427995
http://dx.doi.org/10.1002/mgg3.1791

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580098/
https://www.ncbi.nlm.nih.gov/pubmed/34427995
http://dx.doi.org/10.1002/mgg3.1791

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