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Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families. Flexion deformities of the knees and hips with club feet and absent patellae were consistently obs...

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Hlavní autoři: Cormier-Daire, V., Chauvet, M., Lyonnet, S., Briard, M., Munnich, A., Le Merrer, M.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2000
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734629/
https://ncbi.nlm.nih.gov/pubmed/10882755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.7.520
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