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- W2791891538 abstract "Nance–Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance–Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration." @default.
- W2791891538 created "2018-03-29" @default.
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- W2791891538 date "2018-01-22" @default.
- W2791891538 modified "2023-10-09" @default.
- W2791891538 title "Congenital diaphragmatic hernia as a part of Nance–Horan syndrome?" @default.
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- W2791891538 doi "https://doi.org/10.1038/s41431-017-0032-z" @default.
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