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UPPER LIMB DEFECT ASSOCIATED WITH DEVELOPMENTAL DELAY, UNILATERAL POORLY DEVELOPED ANTIHELIX, HEARING DEFICIT, AND BILATERAL CHOROID COLOBOMA - A NEW SYNDROME
被引：3
|作者：
WARD, JR
DEOWENS, CS
SIERRA, IA
机构：
[1] COMPLEJO HOSP METROPOLITANO CAJA SEGURO SOCIAL ARNULFO ARIOS M,CLIN GENET SECT,PANAMA CITY,PANAMA
[2] COMPLEJO HOSP METROPOLITANO CAJA SEGURO SOCIAL ARNULFO ARIAS M,NEONATOL SERV,PANAMA CITY,PANAMA
关键词：
D O I：
10.1136/jmg.29.8.589
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ;
090102 ;
摘要：
Two sibs are reported with upper limb defect, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. The inheritance is probably autosomal recessive.
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页码：589 / 591
页数：3
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