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...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Wade, Emma M., Parthasarathy, Padmini, Mi, Jingyi, Morgan, Tim, Wollnik, Bernd, Robertson, Stephen P., Cundy, Tim
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2021
Schlagworte:
Brief Communication
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8106901/
https://ncbi.nlm.nih.gov/pubmed/33967277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-021-00902-0
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