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...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Watanabe, Miki, Hayabuchi, Yasunobu, Ono, Akemi, Naruto, Takuya, Horikawa, Hideaki, Kohmoto, Tomohiro, Masuda, Kiyoshi, Nakagawa, Ryuji, Ito, Hiromichi, Kagami, Shoji, Imoto, Issei
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5381605/
https://ncbi.nlm.nih.gov/pubmed/28428889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.6
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