Duane-Radial Ray syndrome a SALL4-Related Disorder. Report of a case in Chile
<p>The Duane-Radial Ray syndrome or Okihiro syndrome belongs to the SALL4-Related Disorders, a phenotypic spectrum, that additionally includes, acrorenoocular syndrome and Holt-Oram syndrome, caused by the alteration of the same gene, which has significant relevance in the mesoderm, the limbs,...
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| Format: | Book |
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Global Journal of Rare Diseases - Peertechz Publications,
2020-09-07.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | peertech__10_17352_2640-7876_000024 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Jonathan Huserman |e author |
| 700 | 1 | 0 | |a Catherine Diaz |e author |
| 245 | 0 | 0 | |a Duane-Radial Ray syndrome a SALL4-Related Disorder. Report of a case in Chile |
| 260 | |b Global Journal of Rare Diseases - Peertechz Publications, |c 2020-09-07. | ||
| 520 | |a <p>The Duane-Radial Ray syndrome or Okihiro syndrome belongs to the SALL4-Related Disorders, a phenotypic spectrum, that additionally includes, acrorenoocular syndrome and Holt-Oram syndrome, caused by the alteration of the same gene, which has significant relevance in the mesoderm, the limbs, and the heart development. These syndromes are characterized by thumb alteration, radial deviation of the forearm, Duane anomaly, and variable involvement of other organs such as kidney or heart. The prevalence is unknown. This is a case report of a Chilean patient with a pathogenic variant that confirms the Duane Radial Ray syndrome previously not described in the population.</p> | ||
| 540 | |a Copyright © Jonathan Huserman et al. | ||
| 546 | |a en | ||
| 655 | 7 | |a Case Report |2 local | |
| 856 | 4 | 1 | |u https://doi.org/10.17352/2640-7876.000024 |z Connect to this object online. |