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Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature

INTRODUCTION: Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3 gene. Characteristic features include shorten...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Case Rep Obstet Gynecol
Hauptverfasser: Jimah, Bashiru Babatunde, Mensah, Teresa Aba, Ulzen-Appiah, Kofi, Sarkodie, Benjamin Dabo, Anim, Dorothea Akosua, Amoako, Emmanuella, Gyamfi, Evelyn Antwiwaa
Format: Artigo
Sprache:Inglês
Veröffentlicht: Hindawi 2021
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8057870/
https://ncbi.nlm.nih.gov/pubmed/33953997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2021/9940063
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