"Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome"

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Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome

To reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies. Click to show full abstract

To reach a molecular diagnosis for a family with two consecutive fetuses presenting with multiple congenital anomalies.

Keywords: family; key interpretation; diagnosis; interpretation exome; family history; history key

Journal Title: Prenatal Diagnosis
Year Published: 2022

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