Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding

We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital heart defects, hypotonia, dysmorphology, and unique findings,...

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Detalles Bibliográficos
Autores principales: Mark, Paul R., Murray, Stephen A., Yang, Tao, Eby, Alexandra, Lai, Angela, Lu, Di, Zieba, Jacob, Rajasekaran, Surender, VanSickle, Elizabeth A., Rossetti, Linda Z., Guidugli, Lucia, Watkins, Kelly, Wright, Meredith S., Bupp, Caleb P., Prokop, Jeremy W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632358/
https://www.ncbi.nlm.nih.gov/pubmed/36307211
http://dx.doi.org/10.1101/mcs.a006169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632358/
https://www.ncbi.nlm.nih.gov/pubmed/36307211
http://dx.doi.org/10.1101/mcs.a006169

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