Article
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
American journal of human genetics - 4 Sept 2014
Acuna-Hidalgo Rocio, Schanze Denny, Kariminejad Ariana, Nordgren Ann, Kariminejad Mohamad Hasan, Conner Peter, Grigelioniene Giedre, Nilsson Daniel, Nordenskjöld Magnus, Wedell Anna, Freyer Christoph, Wredenberg Anna, Wieczorek Dagmar, Gillessen-Kaesbach Gabriele, Kayserili Hülya, Elcioglu Nursel, Ghaderi-Sohi Siavash, Goodarzi Payman, Setayesh Hamidreza, van de Vorst Maartje, Steehouwer Marloes, Pfundt Rolph, Krabichler Birgit, Curry Cynthia, MacKenzie Malcolm G, Boycott Kym M, Gilissen Christian, Janecke Andreas R, Hoischen Alexander, Zenker Martin
Abstract excerpt
Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. Homozygous mutations in PHGDH, a gene involved in the first and limiting step in L-serine biosynthesis, were recently identified as the cause of the disease in three families. By studying a cohort of 12 unrelated families affected by...
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