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Phenotypic and genetic analysis of the Silver‐Russell syndrome
Author(s) -
Escobar Victor,
Gleiser Sonia,
Weaver David D.
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb01182.x
Subject(s) - pedigree chart , etiology , variable expression , phenotype , genetics , medicine , pediatrics , biology , bioinformatics , gene
A family is reported in which two half‐siblings present clinical findings suggestive of the Silver‐Russell syndrome (SRS). The available published literature on SRS is reviewed and the variable expression of the syndrome demonstrated. A review of published pedigrees of the syndrome suggests that in a small percentage of cases, SRS has a genetic etiology.