Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder?-Reference-Cited by-同舟云学术

Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder?

Published:1993-10-01 Issue:5 Volume:47 Page:679-682
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Donnai Dian,Barrow Margaret

Publisher

Wiley

Subject

Genetics(clinical)

Reference4 articles.

1. Iris dysplasia, orbital hypertelorism, and psychomotor retardation: A dominantly inherited developmental syndrome

2. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities

3. Syndrome of ocular and facial anomalies, telecanthus, and deafness

4. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

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