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Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3
Journal article   Peer reviewed

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3

Ariana Kariminejad, Shahriar Nafissi, Yalda Nilipoor, Alireza Tavasoli, Paul P. Van Veldhoven, Carine Bonnard, Yeng Ting Ng, Charles B. Majoie, Bruno Reversade and Raoul C. Hennekam
American journal of medical genetics. Part A, Vol.167A(11), pp.2508-2515
Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, Van Veldhoven PP, Bonnard C, Ng YT, Majoie CB, Reversade B, Hennekam RC. 2015. Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3. Am J Med Genet Part A 167A:2508-2515.
11/2015
PMID: 26192890

Abstract

autosomal recessive muscle weakness newly described syndrome

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