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pro vyhledávání: '"Bruno Reversade"'
Autor:
Carine Bonnard, Shahriar Nafissi, Charles B. L. M. Majoie, Paul P. Van Veldhoven, Bruno Reversade, Yeng Ting Ng, Raoul C.M. Hennekam, Ariana Kariminejad, Ali Reza Tavasoli, Yalda Nilipoor
Publikováno v:
American journal of medical genetics. Part A, 167AA(11), 2508-2515. Wiley-Liss Inc.
We report on a sister and two brothers born to healthy Iranian parents with mild intellectual disability, progressive muscle weakness, and characteristic facies. including highly arched eyebrows, down-slanting palpebral fissures, prominent nasal brid