216820 COLOBOMA, OCULAR

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table OF CONTENTS

• TEXT
• REFERENCES
• CREATION DATE
• EDIT HISTORY
• CLINICAL SYNOPSIS

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TEXT

Pagon et al. (1981) reported ocular coloboma in brother and sister with unaffected and unrelated parents. The mother was diabetic. They suggested possible recessive inheritance, as have others. The wide intrafamilial variability seen in autosomal dominant coloboma (120200) makes the conclusion uncertain.

REFERENCES

1. Pagon, R. A.; Kalina, R. E.; Lechner, D. J. :

Possible autosomal-recessive ocular coloboma. Am. J. Med. Genet. 9: 189-193, 1981.
PubMed ID : 7282780

 

CLINICAL SYNOPSIS

View Clinical Synopsis Entry

CREATION DATE

Victor A. McKusick : 6/3/1986

EDIT HISTORY

mimadm : 2/19/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/3/1986