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Open AccessLow autopsy acceptance after stillbirth in a disadvantaged French district: a mixed methods study
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Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-ch...
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Antiphospholipid syndrome and other autoimmune diseases associated with chronic intervillositis
Chronic intervillositis of unknown etiology (CIUE) is characterized by an intervillous infiltrate of mononuclear cells and a high recurrence rate of adverse obstetrical outcomes. The aim was to describe obstet...
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Open Access3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome
Roberts syndrome (RBS) is a rare autosomal recessive disorder mainly characterized by growth retardation, limb defects and craniofacial anomalies. Characteristic cytogenetic findings are "railroad track" appea...
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Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiolog...
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The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital ence...