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CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
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  • Published on:
    Answer to >
    • Frederic Brioude, Doctor
    • Other Contributors:
      • Fr?d?ric Brioude, Isabelle Oliver, Maith? Tauber, Yves Le Bouc, Ir?ne Netchine

    RSS was first described in 1953 [1]. It is a clinically and genetically heterogeneous condition. Clinical diagnosis is based on various characteristics including slow growth before and after birth, relative macrocephaly, a prominent forehead at a young age, hemihypotrophy, and fifth finger clinodactyly. Five different diagnostic scoring systems of RSS have been published. These systems take into account most major clini...

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    Conflict of Interest:
    None declared.
  • Published on:
    Dubious classification Russell Silver Syndrome

    In 2007, Netchine et al. identified imprinting center region I (ICRI) loss of methylation (LOM) as a cause of typical Russell Silver syndrome (RSS) in 37 of 58 subjects who met their recruitment criteria of intrauterine growth retardation (IUGR/SGA) plus at least 3 of 5 criteria: 1) postnatal growth retardation; 2) relative macrocephaly at birth; 3) prominent forehead during early childhood; 4) body asymmetry, and; 5) fe...

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    Conflict of Interest:
    None declared.