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

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

<b>: </b>CDC42 (cell division cycle protein 42) belongs to the Rho GTPase family that is known to control the signaling axis that regulates several cellular functions, including cell cycle progression, migration, and proliferation. However, the functional characterization of the <i>...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
CDC42
a de novo missense variant
poor wound healing
pancytopenia
recurrent infections
Online Access:https://www.mdpi.com/2073-4425/12/2/294

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