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Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

J Osteoporos 2011:540178 (2011)
DOI:10.4061/2011/540178

Lu Y, Zhang S, Wang Y, Ren X, Han J

Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.

Intractable Rare Dis Res 8:98-107 (2019)
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Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, Lopez-Gonzalez V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome  overlap syndrome.

Orphanet J Rare Dis 8:78 (2013)
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