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.

doi:10.3390/genes12020294

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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.

Genes - 20 Feb 2021

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

Abstract excerpt

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 CDC42 gene in mammalian physiology remains largely unclear. Here, we report the genetic and functional characterization of a non-consanguineous...

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PMID: 33672558
DOI: 10.3390/genes12020294
PMCID: PMC7923796

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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