Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness
SPTBN4相关神经发育障碍伴肌张力低下、神经病变和耳聋的自然史
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03810-4
AlQudairy, Hanan; AlMuhaizea, Mohammad A; Tohary, Mohamed; Alfuraih, Maissa; Alnafisah, Aisha; AlHargan, Aljouhra; Albader, Anoud; Jaber, Hadeel; Almass, Rawan; Albakheet, Albandary; Alsheddi, Terfa; AlObeid, Eman; Alrasheed, Maha M; Al-Odaib, Ali; AlZaidan, Hamad; AlSayed, Moeenaldeen D; Kaya, Namik