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Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia
Pulmonary acinar hypoplasia (PAH) and lacrimo-auriculo-dento-digital (LADD) syndrome have both been associated with loss-of-function variants in, or deletions of FGF10. Here we report a multi-generational family with seven members manifesting varying features of LADD syndrome, with one individual dy...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8106901/ https://www.ncbi.nlm.nih.gov/pubmed/33967277 http://dx.doi.org/10.1038/s41431-021-00902-0 |