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Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report

BACKGROUND: Fraser syndrome is a rare genetic disorder that often presents with ocular, renal, genital and limb’s congenital anomalies. The prognosis of this genetic disorder depends on the severity of the combination of congenital malformations, some of which may be fatal. The diagnosis of Fraser s...

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Detalles Bibliográficos
Autores principales: Mbonda, Aimé, Endomba, Francky Teddy, Kanmounye, Ulrick S., Nkeck, Jan René, Tochie, Joel Noutakdie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704688/
https://www.ncbi.nlm.nih.gov/pubmed/31438902
http://dx.doi.org/10.1186/s12887-019-1673-6