Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.

Mathilde Becmeur-LefebvreAnne-Marie BeaufrereChristine FrancannetHelene LaurichesseCharlotte PoeThibaud JouanBaptiste TroudePierre DechelottePierre VabresMarie BriardAnne-Laure Mosca-BoidronYannis DuffourdLaurence Olivier-FaivreJulien ThevenonChristel Thauvin-Robinet

Published in: American journal of medical genetics. Part A (2018)

Keyphrases

intellectual disability
early onset
muscular dystrophy
autism spectrum disorder