...
机译:双腿丧失功能丧失P4HTM基因变体导致低呼吸,下呼吸悬浮,智障,癫痫病毒,癫痫和眼睛异常(HIDEA综合症)
Univ Oulu PEDEGO Res Unit Oulu Finland;
Univ Oulu Bioctr Oulu Oulu Finland;
Univ Oulu PEDEGO Res Unit Oulu Finland;
Univ Oulu PEDEGO Res Unit Oulu Finland;
Univ Oulu PEDEGO Res Unit Oulu Finland;
Gv Preyer Childrens Hosp Kaiser Franz Josef Hosp Dept Pediat Vienna Austria;
Univ Amsterdam Amsterdam UMC Dept Clin Genet Amsterdam Netherlands;
Med Univ Vienna Ctr Anat &
Cell Biol Neuromuscular Res Dept Vienna Austria;
Massachusetts Gen Hosp Psychiat &
Neurodev Genet Unit Boston MA 02114 USA;
Univ Oulu PEDEGO Res Unit Oulu Finland;
Texas Childrens Hosp Houston TX 77030 USA;
Oulu Univ Hosp Northern Finland Lab Ctr NordLab Oulu Finland;
Oulu Univ Hosp Northern Finland Lab Ctr NordLab Oulu Finland;
Univ Amsterdam Amsterdam UMC Dept Clin Genet Amsterdam Netherlands;
Gv Preyer Childrens Hosp Kaiser Franz Josef Hosp Dept Pediat Vienna Austria;
Oulu Univ Hosp Dept Pathol Oulu Finland;
Massachusetts Gen Hosp Psychiat &
Neurodev Genet Unit Boston MA 02114 USA;
Univ Helsinki Genome Scale Biol Res Program Dept Med Genet Helsinki Finland;
Baylor Coll Med Mol &
Human Genet Houston TX 77030 USA;
Texas Childrens Hosp Houston TX 77030 USA;
Univ Oulu PEDEGO Res Unit Oulu Finland;
Univ Amsterdam Amsterdam UMC Dept Clin Genet Amsterdam Netherlands;
Baylor Coll Med Mol &
Human Genet Houston TX 77030 USA;
Med Univ Vienna Ctr Anat &
Cell Biol Neuromuscular Res Dept Vienna Austria;
Univ Oulu Bioctr Oulu Oulu Finland;
Univ Oulu PEDEGO Res Unit Oulu Finland;
P4HTM; exome sequencing; HIDEA syndrome; intellectual disability; hypoventilation;
机译:双腿丧失功能丧失P4HTM基因变体导致低呼吸,下呼吸悬浮,智障,癫痫病毒,癫痫和眼睛异常(HIDEA综合症)
机译:在胆固醇生物合成中的Lanterolo醇合成酶基因LSS中的双腿病原变异导致患有智力残疾的疾病,一种罕见的隐性神经分区综合征
机译:Charcot-Marie-Tooth神经病变,智力残疾,难治性癫痫,侵略性和两种SIBs中的双层MCM3AP变体
机译:为X连锁智力障碍(XLID)基因面板测试提交的病例中的表型和变异形式。
机译:双等位基因功能丧失的P4HTM基因变异导致肌张力低下换气不足智力异常残疾自主神经失调癫痫和眼睛异常(HIDEA综合症)
机译:双腿丧失功能丧失P4HTM基因变体导致低呼吸,下呼吸,智力残疾,消亡,癫痫和眼睛异常(HIDEA综合症)