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Novel compound heterozygous mutations in INPPL1 in a family with severe opsismodysplasia
OBJECTIVE: To identify the genetic basis of a severe skeletal lethal dysplasia. The main clinical features of two affected fetuses included: short limbs with flared metaphyses, bowed radii, femora and tibiae, irregular ossification of hands and feet and marked platyspondyly. METHODS: Affected and no...
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| Vydáno v: | Clin Dysmorphol |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4995133/ https://ncbi.nlm.nih.gov/pubmed/27233067 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MCD.0000000000000136 |
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