Diastrophic dysplasia diagnosed in a case published 100 years ago

Lapunzina, Pablo; Arberas, Claudia; Fernández, María del Carmen Martínez; Tello, Ana María

doi:10.1002/(sici)1096-8628(19980526)77:4<334::aid-ajmg17>3.3.co;2-b

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2003

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“…The first published description of a DD patient is that by Arraga of Argentina in 1897 (see Lapunzina et al 1998). Lamy and Maroteaux in 1960 separated DD as an entity of its own.…”

Section: Historical Aspectsmentioning

confidence: 99%

The Finnish disease heritage III: the individual diseases

Norio

2003

Hum Genet

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This article is the third and last in a series entitled The Finnish Disease Heritage I-III. All the 36 rare hereditary diseases belonging to this entity are described for clinical and molecular genetic purposes, based on the Finnish experience gathered over a period of half a century. In addition, five other diseases are mentioned. They may be included in the list of the "Finnish diseases" after adequate complementary studies.Abbreviations AFP alpha-fetoprotein · CT computed tomography · ECG electrocardiography · EEG electroencephalography · ENMG electroneuromyography · ERG electroretinography · HUCH Helsinki University Central Hospital · MBD minimal brain dysfunction · MIM Mendelian Inheritance of Man (McKusick) · MRI magnetic resonance imaging · OUH Oulu University Hospital · SEP somatosensory evoked potential · SPECT single photon emission computed tomography · TUH Turku University Hospital · VEP visual evoked potential Reijo Norio

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“…The first published description of a DD patient is that by Arraga of Argentina in 1897 (see Lapunzina et al 1998). Lamy and Maroteaux in 1960 separated DD as an entity of its own.…”

Section: Historical Aspectsmentioning

confidence: 99%

The Finnish disease heritage III: the individual diseases

Norio

2003

Hum Genet

View full text Add to dashboard Cite

show abstract

Diastrophic dysplasia diagnosed in a case published 100 years ago

Cited by 1 publication

References 4 publications

The Finnish disease heritage III: the individual diseases

The Finnish disease heritage III: the individual diseases

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