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April 1, 2001Journal of Medical GeneticsOpen Access

Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

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Cite This Study

Katariina Hannula‐Jouppi (2001) studied this question.

synapsesocial.com/papers/6a8fb18172d30ddf4483043a https://doi.org/10.1136/jmg.38.4.273

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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.Original Research · 1995 · 84 citations
2Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?Original Research · 1994 · 188 citations
3Phenotypic and genetic analysis of the Silver‐Russell syndromeReview · 1978 · 63 citations
4Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardationOriginal Research · 1995 · 303 citations
5The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteriaOriginal Research · 1999 · 273 citations