Orphanet Journal of Rare Diseases, 2021 Background Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt.
R. Meyer +16 more
semanticscholar +1 more source
Molecular Cytogenetics, 2021 Background Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3).
Marguerite Hureaux +7 more
doaj +1 more source
Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver-Russell syndrome-like mouse models. [PDF]
Elife, 2022 Dysregulation of the imprinted H19/IGF2 locus can lead to Silver-Russell Syndrome (SRS) in humans. However, the mechanism of how abnormal H19/IGF2 expression contributes to various SRS phenotypes remains unclear, largely due to incomplete understanding ...
Chang S +10 more
europepmc +2 more sources
Clinical characterization of PLAG1- related Silver-Russell syndrome：A clinical report.
European Journal of Medical Genetics, 2023 BACKGROUND Silver-Russell syndrome (SRS) is a rare genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Loss of methylation on chromosome 11p15 and maternal uniparental disomy on chromosome 7 (upd(7)mat) are two ...
Ping Dong +4 more
semanticscholar +1 more source
Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome. [PDF]
Front Pediatr, 2022 Silver-Russell syndrome (SRS, OMIM 180860) is a rare imprinting disorder characterized by intrauterine and postnatal growth restriction, feeding difficulties in early childhood, characteristic facial features, and body asymmetry. The molecular cause most
Loid P +6 more
europepmc +2 more sources
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype. [PDF]
J Med Genet, 2023 Background Imprinting centre 2 (IC2) in the chromosomal region 11p15.5 regulates the monoallelic expression of imprinted genes by differential methylation of paternal and maternal chromosomes.
Gaudet MV +4 more
europepmc +2 more sources
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant. [PDF]
Front Endocrinol (Lausanne)Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead ...
Ventresca S +6 more
europepmc +2 more sources
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes. [PDF]
Mol Cytogenet, 2022 Background Silver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, body asymmetry and typical facial features.
Baba N +7 more
europepmc +2 more sources
Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome [PDF]
, 2015 Pure ovarian choriocarcinoma is an extremely rare malignancy that can be gestational or non-gestational in origin. Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterized by pre- and postnatal growth failure, relative ...
Haruma, Tomoko +7 more
core +1 more source
Silver: Russell syndrome with cryptorchidism
Annals of Medical and Health Sciences Research, 2013 Sir, An 8-year-old boy was admitted for evaluation of bilateral undescended testes and short stature. The boy is a product of non-consanguineous marriage and was delivered at term with birth weight of 1.5 kg. The parents noticed a mild facial asymmetry since birth and poorly developed scrotum with absent testicles. After evaluation, the parents were
Reddy, H Babul +2 more
openaire +3 more sources