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Nomenclature Letters in the American Journal of Medical Genetics
In May 2012, I submitted a letter to the American Journal of Medical Genetics about a name change for M-CM proposed in a paper published in that journal. The editor, John Carey, was receptive to input from the patient community and agreed to publish the letter. The letter includes comments left by patient families on an earlier blog post about this issue. It has finally been published in the August 2013 issue in conjunction with a response from Dr. Mirzaa and Dr. Dobyns and an editor's note. AJMG has generously removed the article fees from them so that they are free for the patient community to read. We are grateful to Dr. Carey for making our point of view available in the medical literature and for his concern for this issue in a broader sense.
Links:
- Nomenclature in Macrocephaly Capillary Malformation Syndrome, Christy Collins, M-CM Network [pdf]
- The “megalencephaly-capillary malformation” (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome, Ghayda M. Mirzaa and William B. Dobyns [pdf]