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Primary Amenorrhea and Absent Uterus in the 22q11.2 Deletion Syndrome

The classic clinical features in the 22q11.2 deletion syndrome are congenital heart defects, hypocalcemia, immunodeficiency, learning, speech, and behavioral difficulties. The phenotype is highly variable and continues to expand. We present two cases of absent uterus and unilateral renal agenesis in...

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Bibliographische Detailangaben
Hauptverfasser: Sundaram, Usha T., McDonald-McGinn, Donna M., Huff, Dale, Emanuel, Beverly S., Zackai, Elaine H., Driscoll, Deborah A., Bodurtha, Joann
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2007
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2810967/
https://ncbi.nlm.nih.gov/pubmed/17676598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.31736
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