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Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22.

Abstract:

We report a spectrum of defects that were found in an 18-year-old girl who presented for investigation of primary amenorrhea. The patient was found to have Duane anomaly, left renal agenesis, absent uterus, bilateral sensorineural deafness, and bilateral preauricular skin tags and sinuses. Investigation of her family showed that her brother also had Duane anomaly, right renal agenesis, sensorineural deafness, and preauricular skin tags and that their father had preauricular skin tags. Cytogen...

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Publication status:
Published

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Publisher copy:
10.1002/ajmg.1320470623

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Journal:
American journal of medical genetics
Volume:
47
Issue:
6
Pages:
925-930
Publication date:
1993-11-01
DOI:
EISSN:
1096-8628
ISSN:
0148-7299
Source identifiers:
28140

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