Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype
Journal article published in 2023 by
Nicolas Bourgon 
,
Ruiqian Chen,
Gilles Grangé,
Sarah Grotto,
Clémence Molac,
Laurence Loeuillet,
Tania Attié‐Bitach
,
Ruiqian Chen,
Gilles Grangé,
Sarah Grotto,
Clémence Molac,
Laurence Loeuillet,
Tania Attié‐Bitach
This paper was not found in any repository, but could be made available legally by the author.
Full text: Unavailable
Published version:
archiving forbidden
Data provided by 
Abstract
AbstractNeu Laxova syndrome (NLS) is a rare and lethal congenital disorder characterized by severe intra‐uterine growth retardation (IUGR), ichthyosis, abnormal facial features, limb abnormalities with arthrogryposis and a wide spectrum of severe malformations of the central nervous system (CNS). NLS is due to biallelic variants in three genes previously involved in serine‐deficiency disorders (PHGDH, PSAT1 and PSPH), extending the phenotypic spectrum of these disorders.