HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing
HPGD基因突变会导致颅骨关节病,但不会导致常染色体显性遗传性杵状指。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2009.104
Seifert, Wenke; Beninde, Julia; Hoffmann, Katrin; Lindner, Tom H; Bassir, Christian; Aksu, Fuat; Hübner, Christoph; Verbeek, Nienke E; Mundlos, Stefan; Horn, Denise