Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Najim Lahrouchi(Amsterdam UMC Location University of Amsterdam), Abdelaziz Sefiani(Mohammed V University)
Cited by 38
Related Papers
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry
|European Heart Journal|2019|184