Alagille-like syndrome with surprising karyotype: a case report

BACKGROUND: Chromosome 5p partial monosomy (5p-syndrome) and chromosome 6p partial trisomy are chromosomal abnormalities that result in a variety of symptoms, but liver dysfunction is not normally one of them. Alagille syndrome (OMIM #118450) is a multisystem disorder that is defined clinically by h...

Полное описание

Библиографические подробности
Главные авторы: Amimoto, S., Ishii, M., Tanaka, K., Araki, S., Kuwamura, M., Suga, S., Kondo, E., Shibata, E., Kusuhara, K., Yoshino, K.
Формат: Online Статья Текст
Язык:English
Опубликовано: BioMed Central 2023
Предметы:
Case Report
Online-ссылка:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10131304/
https://www.ncbi.nlm.nih.gov/pubmed/37101309
http://dx.doi.org/10.1186/s13256-023-03810-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10131304/
https://www.ncbi.nlm.nih.gov/pubmed/37101309
http://dx.doi.org/10.1186/s13256-023-03810-7

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