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Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome
First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, ‘Larsen of Reunion Island syndrome' is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and...
में बचाया:
| में प्रकाशित: | Eur J Hum Genet |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Nature Publishing Group
2015
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4266744/ https://ncbi.nlm.nih.gov/pubmed/24755949 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.60 |
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