De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic faci...

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Detalles Bibliográficos
Autores principales: Kondo, Yuto, Aoyama, Kohei, Suzuki, Hisato, Hattori, Ayako, Hori, Ikumi, Ito, Koichi, Yoshida, Aya, Koroki, Mari, Ueda, Kentaro, Kosaki, Kenjiro, Saitoh, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261772/
https://www.ncbi.nlm.nih.gov/pubmed/32528716
http://dx.doi.org/10.1038/s41439-020-0107-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261772/
https://www.ncbi.nlm.nih.gov/pubmed/32528716
http://dx.doi.org/10.1038/s41439-020-0107-1

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