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A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review

Reports of interstitial deletions involving proximal long arm of chromosome 2 are limited. Based on early chromosomal analysis studies, the phenotypic consequence of deletions at the ancestral chromosome fusion site at chromosome 2q13q14.1 remains unclear. A recurrent 1.71 Mb deletion at 2q13 has re...

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Detalles Bibliográficos
Autores principales:	Ma, Deqiong, Marion, Robert, Punjabi, Netra Prasad, Pereira, Elaine, Samanich, Joy, Agarwal, Chhavi, Li, Jianli, Huang, Chih-Kang, Ramesh, K H, Cannizzaro, Linda A, Naeem, Rizwan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256837/ https://www.ncbi.nlm.nih.gov/pubmed/25484916 http://dx.doi.org/10.1186/s13039-014-0085-4

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