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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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2022-11-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |