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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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Detalhes bibliográficos
Main Authors: Sundaram, Usha T., McDonald-McGinn, Donna M., Huff, Dale, Emanuel, Beverly S., Zackai, Elaine H., Driscoll, Deborah A., Bodurtha, Joann
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
Assuntos:
Acesso em linha: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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