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P236: Familial Russell-Silver syndrome: Hypomethylation of imprinting center 1 in two siblings
Kendra Engleman +3 more
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[Case of Silver-Russell syndrome].
E, Paczos-Chadyma, H, Chrzastek-Spruch
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Epigenetics in Silver-Russell syndrome
Best Practice and Research in Clinical Endocrinology and Metabolism, 2008Silver-Russell syndrome (SRS) is a clinically heterogeneous syndrome characterized by intra-uterine and postnatal growth retardation with spared cranial growth, dysmorphic features and frequent body asymmetry. Various cytogenetic abnormalities have been described in a small number of SRS or SRS-like cases involving chromosomes 7, 8, 11, 15, 17 and 18 ...
Sylvie Rossignol, Irène Netchine
exaly +3 more sources
Prenatal Diagnosis, 2023
We report a case of maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome (SRS) in a fetus with IUGR and a mother who had growth and feeding problems in early life, dextrocardia and an atrio‐ventricular septal defect ...
Wing Ting Tse +3 more
semanticscholar +1 more source
We report a case of maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome (SRS) in a fetus with IUGR and a mother who had growth and feeding problems in early life, dextrocardia and an atrio‐ventricular septal defect ...
Wing Ting Tse +3 more
semanticscholar +1 more source
Current pediatric reviews, 2022
Background Silver-Russell syndrome (SRS) is a developmental disorder with extreme growth failure, characteristic facial features and underlying genetic heterogeneity.
Amit Singh +3 more
semanticscholar +1 more source
Background Silver-Russell syndrome (SRS) is a developmental disorder with extreme growth failure, characteristic facial features and underlying genetic heterogeneity.
Amit Singh +3 more
semanticscholar +1 more source
Genetics of Silver-Russell Syndrome
Hormone Research in Paediatrics, 1998The Silver-Russell syndrome (SRS) is generally sporadic, but with sufficient reported cases of dominant and recessive patterns of inheritance to suggest a genetic cause in some cases, at least. No consistent cytogenetic abnormalities have been found although some features of the syndrome have been reported to be associated with structural abnormalities
E L, Wakeling +6 more
openaire +2 more sources

