CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
REVIEW
A new chromosomal instability disorder confirmed by complementation studies.
Clinical Genetics 1988 January
Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).
Full text links
Trending Papers
Management of type 2 diabetes in the new era.Hormones : International Journal of Endocrinology and Metabolism 2023 September 14
Beta-blocker therapy in patients with acute myocardial infarction: not all patients need it.Acute and critical care. 2023 August
The pathophysiology, diagnosis, and management of sepsis-associated disseminated intravascular coagulation.Journal of Intensive Care 2023 May 24
Abdominal wall closure.British Journal of Surgery 2023 September 16
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
Read by QxMD is copyright © 2021 QxMD Software Inc. All rights reserved. By using this service, you agree to our terms of use and privacy policy.
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app