Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

BACKGROUND: A disruption of sorting nexin 3 (SNX3) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no SNX3 mutations were identified in another sporadic case of MMEP, suggesting involvement of another gene....

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Detalles Bibliográficos
Autores principales: Kumar, Ravinesh A, Everman, David B, Morgan, Chad T, Slavotinek, Anne, Schwartz, Charles E, Simpson, Elizabeth M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950490/
https://www.ncbi.nlm.nih.gov/pubmed/17655765
http://dx.doi.org/10.1186/1471-2350-8-48

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950490/
https://www.ncbi.nlm.nih.gov/pubmed/17655765
http://dx.doi.org/10.1186/1471-2350-8-48

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