On Saraiva and Baraitser and Joubert syndrome: A review
First published: 1 July 1993
No abstract is available for this article.
References
-
Casamassima AC,
Mamunes P,
Gladstone JM Jr
(1987):
A new syndrome?: Features of the Smith-Lemli-Opitz and Meckel-Gruber syndrome in a sibship with cerebellar defects.
Am J Med Genet
26:
321–326.
-
Di Rocco M,
Gatti R,
Barabino A,
Barrone C,
Jaeken J
(1992):
CDG syndrome: The first two Italian patients.
Abstract 30th Annual Symposium SSIEM Leuven Sept 8th–11th.
-
Jaeken J,
van Eijk HG,
van der Heul C,
Corbeel L,
Eeckels R,
Eggermont E
(1984):
Sailic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.
Clin Chim Acta
144:
245–247.
-
Jaeken J,
Hagberg B,
Stromme P
(1991):
Clinical presentation and natural course of the carbohydrate-deficient glycoprotein syndrome.
Acta Paediatr Scand Suppl
375:
6–13.
-
Saraiva JM,
Baraitser M
(1992):
Joubert syndrome: A review,
Am J Med Gen
43:
726–731.
-
Stibler H,
Jaeken J,
Kristiansson B
(1991):
Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome.
Acta Paediatr Scand Suppl
375:
21–31.
-
Thompson E,
Baraitser M
(1986):
An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts.
Am J Med Genet
24:
151.
-
Walpole JR,
Goldblatt J,
Hockey A,
Knowles S
(1991):
Dandy-Walker malformation (variant), cystic dysplastic kidneys and hepatic fibrosis: A distinct entity or Meckel syndrome?
Am J Med Genet
39:
294.
