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A new lethal syndrome of exomphalos, short limbs, and macrogonadism

We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous...

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Bibliografische gegevens
Hoofdauteurs: Faivre, L., Delezoide, A., Narcy, F., Razavi, F., Bouvier, R., Cormier-Daire, V., Briard, M., Lyonnet, S., Vekemans, M., Munnich, A., Le Merrer, M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 1999
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734299/
https://ncbi.nlm.nih.gov/pubmed/10051012
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