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SIX3 mutations with holoprosencephaly

✍ Scribed by Lucilene Arilho Ribeiro; Kenia B. El-Jaick; Maximilian Muenke; Antonio Richieri-Costa


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
392 KB
Volume
140A
Category
Article
ISSN
1552-4825

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The prenatal diagnosis of dup(3p) was made in a female conceptus, the father being a known carrier of a balanced translocation t(3; lO)(p21 ;q26). Interruption of pregnancy at 19 weeks showed a fetus with a holoprosencephaly field defect. Two other cases of dup(3p) have been observed in the same fam

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