Document Detail

Hypothesis: patient with possible disturbance in programmed cell death.
MedLine Citation:
PMID:  8825579     Owner:  NLM     Status:  MEDLINE    
Programmed cell death is a physiological process in mammalian development by which specific types of cells are eliminated, and, hence, is of fundamental importance in normal human embryogenesis. A patient is described with multiple congenital anomalies that may be explained by a disturbance of programmed cell death. Anomalies included macrocephaly, hypoplastic lacrimal ducts, narrow external ear canals, pharyngeal mucous membrane fold, unilateral cryptorchidism, cord-like vasa deferentia, and complete cutaneous syndactyly of the hands and feet.
R C Hennekam; M M Cohen
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Publication Detail:
Type:  Case Reports; Letter    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  3     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  1995  
Date Detail:
Created Date:  1996-12-05     Completed Date:  1996-12-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  374-7     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / etiology*,  physiopathology
Apoptosis / physiology*

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