Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia
Objective: One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested. Case report: The ALPL gene mutations were identified. Maternal heterozygous deletion on Ch...
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| Formaat: | Boek |
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Elsevier,
2022-11-01T00:00:00Z.
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A1234.567 |
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| Kopie 1 | Beschikbaar |