X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.

Journal of medical genetics ·Vol. 28 ·No. 6 ·1991-06-00 ·Pages 429-31

Fryns JP, Spaepen A, Cassiman JJ, van den Berghe H

Abstract

暂无摘要

MeSH Terms

Adult Female Genetic Linkage Humans Hydrocephalus/genetics Male Middle Aged Mutation Pedigree Spastic Paraplegia, Hereditary/genetics X Chromosome

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Fryns J P

Spaepen A

Cassiman J J

van den Berghe H

References (9)

9 references, click to expand

MASA syndrome: new clinical features and linkage analysis using DNA probes.
J Med Genet. 1990 Nov;27(11):688-92 PMID: 2277384
Molecular heterogeneity in chondrodysplasias.
Am J Hum Genet. 1989 Jul;45(1):1-4 PMID: 2662765
MASA syndrome: further clinical delineation and chromosomal localisation.
Hum Genet. 1989 Jul;82(4):367-70 PMID: 2737668
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
Am J Med Genet. 1988 May-Jun;30(1-2):493-508 PMID: 3177467
The MASA syndrome: a new heritable mental retardation syndrome.
Clin Genet. 1974;5(4):298-306 PMID: 4855169
X-linked hydrocephalus.
Am J Med Genet. 1987 Aug;27(4):921-8 PMID: 3425602
Mental retardation-clasped thumb syndrome.
Am J Med Genet. 1984 Jan;17(1):339-44 PMID: 6538754
X-linked mental retardation associated with bilateral clasp thumb anomaly.
Am J Med Genet. 1984 Jan;17(1):333-8 PMID: 6538753
Linkage studies of X-linked recessive spastic paraplegia using DNA probes.
Hum Genet. 1986 Jul;73(3):264-6 PMID: 3460961

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

Published

1991-06-00

Pages

429-31

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1016918

Subset

External Links

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