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Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with a Candidate Novel De Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum

Abdulaziz Asiri,Deemah Alwadaani,Muhammad Umair,Kheloud M. Alhamoudi,Mohammed H. Almuhanna,Abdul Nasir,Bahauddeen M. Alrfaei,Abeer Al Tuwaijri,Tlili Barhoumi,Yusra Alyafee,Bader Almuzzaini,Mohammed Aldrees,Mariam Ballow,Latifah Alayyar,Abdulkareem Al Abdulrahman,Yazeid Alhaidan, Nahlah Al Ghasham,Sulaiman Al-Ajaji,Mohammad Alsalamah, Wafa Al Suwairi,Majid Alfadhel

Genes（2021）

引用 9|浏览19
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关键词
CDC42,a de novo missense variant,poor wound healing,pancytopenia,recurrent infections
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