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Article

The nosology of Richieri-Costa/Guion-Almeida syndrome(s).

American journal of medical genetics. Part A - 1 Feb 2011

Castori Marco, Cascone Piero, Brinelli Marco, Iannetti Giorgio, Grammatico Paola

Abstract excerpt

Richieri-Costa/Guion-Almeida syndrome type 1 (RCGAS1) is a rare MR/MCA syndrome comprising developmental and growth delay, microcephaly, prominent supraorbital ridges, asymmetric ptosis and eyebrows, esotropia, nystagmus, eye colobomas, and cleft lip/palate. It was originally described in three brothers and an additional sporadic male. The same authors also described a further family with a partially overlapping...

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PMID: 21271661
DOI: 10.1002/ajmg.a.33805

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