Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report

INTRODUCTION: Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2. CASE PRESENTATION: A one-month-old Moroccan baby boy was diagnosed with...

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Vydáno v:J Med Case Rep
Hlavní autoři: Ratbi, Ilham, Fejjal, Nawfal, Legendre, Marie, Collot, Nathalie, Amselem, Serge, Sefiani, Abdelaziz
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4320515/
https://ncbi.nlm.nih.gov/pubmed/25547932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-8-471
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