Article
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Human mutation - 1 Sept 2020
Abdelfattah Fatima, Kariminejad Ariana, Kahlert Anne-Karin, Morrison Patrick J, Gumus Evren, Mathews Katherine D, Darbro Benjamin W, Amor David J, Walsh Maie, Sznajer Yves, Weiß Luisa, Weidensee Sabine, Chitayat David, Shannon Patrick, Bermejo-Sánchez Eva, Riaño-Galán Isolina, Hayes Ian, Poke Gemma, Rooryck Caroline, Pennamen Perrine, Khung-Savatovsky Suonavy, Toutain Annick, Vuillaume Marie-Laure, Ghaderi-Sohi Siavash, Kariminejad Mohamad H, Weinert Sönke, Sticht Heinrich, Zenker Martin, Schanze Denny
Abstract excerpt
Serine biosynthesis disorders comprise a spectrum of very rare autosomal recessive inborn errors of metabolism with wide phenotypic variability. Neu-Laxova syndrome represents the most severe expression and is characterized by multiple congenital anomalies and pre- or perinatal lethality. Here, we present the mutation spectrum and a detailed phenotypic analysis in 15 unrelated families with severe types of serine...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.