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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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Bibliografiske detaljer
Main Authors: Sundaram, Usha T., McDonald-McGinn, Donna M., Huff, Dale, Emanuel, Beverly S., Zackai, Elaine H., Driscoll, Deborah A., Bodurtha, Joann
Format: Artigo
Sprog:Inglês
Udgivet: 2007
Fag:
Online adgang: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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