Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype

A patient with microcephaly, microphthalmia, ectrodactyly, and prognathism (MMEP) and mental retardation was previously reported to carry a de novo reciprocal t(6;13)(q21;q12) translocation. In an attempt to identify the presumed causative gene, we mapped the translocation breakpoints using fluoresc...

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Hlavní autoři: Vervoort, V, Viljoen, D, Smart, R, Suthers, G, DuPont, B, Abbott, A, Schwartz, C
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2002
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1757218/
https://ncbi.nlm.nih.gov/pubmed/12471201
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.12.893
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