American Journal of Medical Genetics

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American Journal of Medical Genetics - 最新文献

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.

Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10564 Marie Gomot, Nathalie Ronce, Sabine Dessay, Ramzi Zemni, Anne-Dominique Ayrault, Marie-Pierre Moizard, Annie Nivelon, Simone Gilgenkrantz, Julliette Dourlens, Vincent Des Portes, Jamel Chelly, Claude Moraine

Kousseff syndrome caused by deletion of chromosome 22q11-13.

Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10625 Shawnia Forrester, Margaret J Kovach, Randell E Smith, Lisa Rimer, Melissa Wesson, Virginia E Kimonis

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10714 Gillian Turner, Michael Partington, Bronwyn Kerr, Marie Mangelsdorf, Jozef Gecz

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