Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association

Prader–Willi syndrome (PWS) is a rare genetic disorder caused by deletion or unexpression of the chromosome 15 (q 11-13). Symptomatologies include hypotonia, hyperphagia, cognitive impairment, and characteristic dysmorphic profile. Here, we report a 4-year-old boy with PWS who presented with complic...

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Vydáno v:Ann Saudi Med
Hlavní autoři: Al Sarkhy, Ahmed, Hassan, Saeed, Alasmi, Mona, Assiri, Asaad Muhammed, Alkuraya, Fowzan S.
Médium: Artigo
Jazyk:Inglês
Vydáno: King Faisal Specialist Hospital and Research Centre 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6074935/
https://ncbi.nlm.nih.gov/pubmed/24658561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5144/0256-4947.2014.81
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