Detection of 1p36 deletion by clinical exome-first diagnostic approach

Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies...

Descripción completa

Detalles Bibliográficos
Autores principales: Watanabe, Miki, Hayabuchi, Yasunobu, Ono, Akemi, Naruto, Takuya, Horikawa, Hideaki, Kohmoto, Tomohiro, Masuda, Kiyoshi, Nakagawa, Ryuji, Ito, Hiromichi, Kagami, Shoji, Imoto, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5381605/
https://www.ncbi.nlm.nih.gov/pubmed/28428889
http://dx.doi.org/10.1038/hgv.2016.6

Ejemplares similares

Ejemplares similares