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Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation

✍ Scribed by Gerhard Neuhauser; Elisabeth G. Kaveggia; John M. Opitz


Book ID
119838424
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
670 KB
Volume
9
Category
Article
ISSN
0009-9163

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An autosomal recessive mental retardatio
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Two sisters had developmental retardation and congenital hepatic fibrosis. One, 23 years old, had facial anomalies reminiscent of Smith-Lemli-Opitz syndrome, ocular coloboma, and hypoplastic kidneys with a single cyst. The other sister died at 18 months and had an encephalocele and cystically dilate