Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference38 articles.
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3. Clinically distinct subgroups in Silver-Russell syndrome: The degree of H19 hyomethylation associated with phenotype severity and genital and skeletal anomalies;Bruce;J Clin Endocrinol Metab,2009
4. Asymmetrical dwarfism, or Silver's syndrome, in two male siblings;Callaghan;Med J Aust,1970
5. 3-M slender-boned nanism: An intrauterine growth retardation syndrome;Cantu;Am J Dis Child,1981
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1. Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review;Current Pediatric Reviews;2023-05
2. Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants;European Journal of Medical Genetics;2021-12
3. Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants;European Journal of Human Genetics;2021-07-19
4. One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome;Orphanet Journal of Rare Diseases;2021-01-22
5. SILVER–RUSSELL SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30
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