Publication
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
Fatima Abdelfattah, Ariana Kariminejad, Anne‐Karin Kahlert, Patrick J. Morrison, Evren Gumus, Katherine D. Mathews, Benjamin W. Darbro, David J. Amor, Maie Walsh, Yves Sznajer, Luisa Weiß, Sabine Weidensee, David Chitayat, Patrick Shannon, Eva Bermejo‐Sánchez, Isolina Riaño‐Galán, Ian Hayes, Gemma Poke, Caroline Rooryck, Perrine Pennamen, Suonavy Khung‐Savatovsky, Annick Toutain, Marie‐Laure Vuillaume, Siavash Ghaderi‐Sohi, Mohamad H. Kariminejad, Sönke Weinert, Heinrich Sticht, Martin Zenker, Denny Schanze
Human Mutation, July 2020, Wiley
DOI: 10.1002/humu.24067