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Article

Non lethal Raine syndrome and differential diagnosis.

European journal of medical genetics - 1 Nov 2016

Elalaoui Siham Chafai, Al-Sheqaih Nada, Ratbi Ilham, Urquhart Jill E, O'Sullivan James, Bhaskar Sanjeev, Williams Simon S, Elalloussi Mustapha, Lyahyai Jaber, Sbihi Leila, Cherkaoui Jaouad Imane, Sbihi Abdelhafid, Newman William G, Sefiani Abdelaziz

Abstract excerpt

Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized osteosclerosis. Amelogenesis imperfecta, hearing loss, seizures, and intracerebral calcification are apparent in some affected individuals. Originally, Raine syndrome was originally reported as a lethal syndrome. However, recently a milder phenotype, compatible with life,...

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Identifiers

PMID: 27667191
DOI: 10.1016/j.ejmg.2016.09.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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