Use of Next-generation Sequencing for Prenatal Diagnosis of Hypophosphatasia

We report on a patient who had recurrent skeletal dysplasia in three of four of her pregnancies which all resulted in termination of pregnancies. The ultrasound and / or histological findings of her first and fourth pregnancy were suggestive of osteogenesis imperfecta while those in her second pregn...

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Veröffentlicht in:	Hong Kong journal of gynaecology, obstetrics, and midwifery = Xianggang fu chan zhu chan ke za zhi obstetrics, and midwifery = Xianggang fu chan zhu chan ke za zhi, 2017-07, Vol.17 (2), p.117
Hauptverfasser:	Choi-Wah, KONG, TO, William Wing-Kee
Format:	Artikel
Sprache:	eng
Schlagworte:	Case reports Fetuses Genetic counseling Genetic disorders Growth disorders Medical diagnosis Phosphates Pregnancy
Online-Zugang:	Volltext
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