This website provides information on patients with mutations in the PHGDH gene, including clinical data, molecular data, management and research options.
Mutations in the PHGDH gene cause an autosomal recessive disorder called Neu-Laxova Syndrome 1 (NLS1), which is characterized by severe growth restriction, skeletal anomalies, microcephaly with distinct facies, short neck, central nervous system anomalies, edema, ichthyosis, and perinatal lethality.
This website was created to share and collect information about clinic, management and research projects to deliver more knowledge and provide better treatment to patients with mutations in the PHGDH gene.
Dr. Fowzan Alkuraya, Fowzan S Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia / Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org
Dr. Ranad Shaheen, PhD, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, email@example.com
Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org