Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion

We report a 17-year-old boy who met most of the major Prader–Willi syndrome (PWS) diagnostic criteria, including infantile hypotonia and poor feeding followed by hyperphagia, early-onset morbid obesity, delayed development, and characteristic facial features. However, unlike many children with PWS,...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Genes (Basel)
Hlavní autoři: Tan, Qiming, Potter, Kathryn J., Burnett, Lisa Cole, Orsso, Camila E., Inman, Mark, Ryman, Davis C., Haqq, Andrea M.
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7073628/
https://ncbi.nlm.nih.gov/pubmed/31991769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11020128
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky