| Autor: |
Francisco Cammarata-Scalisi, Albaro Barrera, Uta Matysiak-Scholze, Yudith Guerrero, Ana Bracho, Jessica Heinze, María Angelina Lacruz-Rengel |
| Rok vydání: |
2015 |
| Předmět: |
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| Zdroj: |
Archivos Argentinos de Pediatria. 113 |
| ISSN: |
0325-0075 |
| DOI: |
10.5546/aap.2015.e10 |
| Popis: |
Metatropic dysplasia is a skeletal disorder with clinical heterogeneity, characterized by craniofacial dysmorphy including frontal bossing and midface hypoplasia, short trunk,progressive kyphoscoliosis and shortened limbs. The TRPV4 gene is located on 12q24.11, coding a cation channel with nonselective permeability to calcium; it is expressed and involved in many physiological processes through responses to different stimuli. Over 50 mutations in TRPV4 have been described. We present a seven months old girl with heterozygous mutation c.1811_1812delinsAT; p.I604N in intron 11 not previously reported in the TRPV4 gene and with clinical findings compatible with metatropic dysplasia. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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