Journal article icon

Journal article

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

Abstract:

We report five patients with a combination of brachymetaphalangia and mental retardation, similar to that observed in Albright hereditary osteodystrophy (AHO). Four patients had cytogenetically visible de novo deletions of chromosome 2q37. The fifth patient was cytogenetically normal and had normal bioactivity of the alpha subunit of Gs (Gs alpha), the protein that is defective in AHO. In this patient, we have used a combination of highly polymorphic molecular markers and FISH to demonstrate ...

Expand abstract
Publication status:
Published

Actions


Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
Expand authors...
Journal:
American journal of human genetics
Volume:
56
Issue:
2
Pages:
400-407
Publication date:
1995-02-05
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:ab601b4a-00e6-4db0-8fa7-1ecf8909360c
Source identifiers:
44724
Local pid:
pubs:44724

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP