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Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome.

Abstract:

Deletions within human chromosome 22q11 cause a wide variety of birth defects including the DiGeorge syndrome and velo-cardio-facial (Shprintzen) syndrome. Despite the positional cloning of several genes from the critical region, it is still not possible to state whether the phenotype is secondary to haploinsufficiency of one or more than one gene. In embryological studies phenocopies of these abnormalities are produced by a variety of actions which disrupt the contribution made by the crania...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/6.2.237

Authors


Roberts, C More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Scambler, PJ More by this author
Journal:
Human molecular genetics
Volume:
6
Issue:
2
Pages:
237-245
Publication date:
1997-02-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:725eff18-11cb-4f88-947c-22058bfe51a3
Source identifiers:
251632
Local pid:
pubs:251632

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