Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BH, Mansour S, Albanese A, Garcia S, Ortiz Martin D, Lopez AA, Claudi T, Konig R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Le Merrer M, Le Luyer B, Heron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Riviere JB, Vigouroux C, Njolstad PR, Innes AM, Thauvin-Robinet C. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. Clin Genet. 2016 Oct 24; 89: 501-506.
PubMed ID:
26497935