International audienceFoetal akinesia deformation sequence syndrome (FADS) is a heterogenous disorder characterised by foetal akinesia and developmental defects including, in some case, pterygia. Multiple pterygium syndromes (MPS) are traditionally divided into prenatally lethal and non-lethal (Escobar) types. Previously, we and others reported that homozygous mutations in the foetal acetylcholine receptor gamma subunit (CHRNG) can cause both lethal and non-lethal MPS, demonstrating that pterygia resulted from foetal akinesia, and that mutations in the acetylcholine receptor subunits CHRNA1, CHRND, and Rapsyn (RAPSN) can also result in a MPS/FADS phenotype. We hypothesised that mutations in other acetylcholine receptor-related genes may int...
Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of ...
BACKGROUND:In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane ...
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromusc...
BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS) is a heterogeneous disorder characte...
Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders charact...
Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders charact...
INTRODUCTION: Foetal akinesia deformation sequence syndrome (FADS) is a genetically heterogeneous di...
Multiple pterygium syndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders charac...
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FAD...
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FAD...
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FAD...
Background Germline mutations in the CHRNG gene that encodes the γ subunit of the embryonal acetylch...
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous grou...
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous grou...
Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of ...
Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of ...
BACKGROUND:In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane ...
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromusc...
BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS) is a heterogeneous disorder characte...
Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders charact...
Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders charact...
INTRODUCTION: Foetal akinesia deformation sequence syndrome (FADS) is a genetically heterogeneous di...
Multiple pterygium syndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders charac...
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FAD...
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FAD...
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FAD...
Background Germline mutations in the CHRNG gene that encodes the γ subunit of the embryonal acetylch...
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous grou...
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous grou...
Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of ...
Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of ...
BACKGROUND:In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane ...
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromusc...