Journal of Radiology and Clinical Imaging

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Case Report Open Access Pages: 1 - 6 China
Ultrasound Diagnosis of Perinatal Lethal Hypophosphatasia, Confirmed with Targeted Next Generation Sequencing and Identification of a Novel Mutation in ALPL Gene

Allybocus Zubair Akbar

Perinatal lethal hypophosphatasia (p-HPP) is a lethal subtype of hypophosphatasia that prioritizes an early detection for appropriate treatment plan. Residual activity of alkaline phosphatase, owing to loss-of-function mutation of ALPL gene, accounts for degree of sev...Read More

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Case Report Open Access Pages: 7 - 15 China
Clinical Significance of Ultrasonography Markers in Prenatal Diagnosis of Turner Syndrome in Fetuses-90 Cases Reports

Allybocus Zubair Akbar

Objective: To evaluate the clinical significance of ultrasonography markers in prenatal diagnosis of Turner syndrome in fetuses.

Methods: Retrospectively 90 karyotypically documented fetuses with Turner syndrome reviewed from our d...Read More

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