A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm
Titel:
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm
Auteur:
Gal, Moran Magen, Daniella Zahran, Younan Ravid, Sarit Eran, Ayelet Khayat, Morad Gafni, Chen Levanon, Erez Y. Mandel, Hanna