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Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication

SUMMARY: Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A ba...

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Detalles Bibliográficos
Autores principales: Giri, Dinesh, Patil, Prashant, Hart, Rachel, Didi, Mohammed, Senniappan, Senthil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404473/
https://www.ncbi.nlm.nih.gov/pubmed/28458900
http://dx.doi.org/10.1530/EDM-16-0125