Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family
在一个近亲结婚的家族中，一种新的ANKH基因突变导致常染色体隐性遗传性智力低下、耳聋、关节强直和轻度低磷血症。
期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/jc.2010-1539
Morava, Eva; Kühnisch, Jirko; Drijvers, Jefte M; Robben, Joris H; Cremers, Cor; van Setten, Petra; Branten, Amanda; Stumpp, Sabine; de Jong, Alphons; Voesenek, Krysta; Vermeer, Sascha; Heister, Angelien; Claahsen-van der Grinten, Hedi L; O'Neill, Charles W; Willemsen, Michèl A; Lefeber, Dirk; Deen, Peter M T; Kornak, Uwe; Kremer, Hannie; Wevers, Ron A
